Full data view for gene MAPT

Information The variants shown are described using the transcript reference sequence.

78 entries on 1 page. Showing entries 1 - 78.
Legend   How to query  

Effect     
Exon     
AscendingDNA change (cDNA)     
RNA change     
Protein     
Variant/VariO/DNA     
Variant/VariO/protein     
Allele     
DNA change (genomic) (hg19)     
Reference     
DB-ID     
Frequency     
Template     
Technique     
Disease     
Reference     
Ethnic origin     
Remarks     
Panel size     
Owner     
./. 10 c.? r.exon 10 skipping P.? - - Unknown G.? Luo Y et al. (2014) GRN_000076 - ? ? FTLD Luo Y et al. (2014) - - 1 XY Liu
./. 2 c.14G>A r.(?) p.(Arg5His) - - Unknown g.44039717G>A Hayashi S1, Toyoshima Y, Hasegawa M, Umeda Y, Wakabayashi K, Tokiguchi S, Iwatsubo T, Takahashi H.(2002) MAPT_000015 - ? ? FTLD Hayashi S1, Toyoshima Y, Hasegawa M, Umeda Y, Wakabayashi K, Tokiguchi S, Iwatsubo T, Takahashi H.(2002) - - 1 Y Yang
./. 3 c.163G>C r.(?) p.(Gly55Arg) - - Unknown g.44049254G>C Iyer A et al. (2013) MAPT_000058 - ? ? FTLD Iyer A et al. (2013) - - 1 XY Liu
./. 4 c.224T>C r.(?) p.(Val75Ala) - - Unknown g.44051754T>C Gallo M1, Tomaino C, Puccio G, Frangipane F, Curcio SA, Bernardi L, Geracitano S, Anfossi M, Mirabelli M, Colao R, Vasso F, Smirne N, Maletta RG, Bruni AC.(2010) MAPT_000022 - ? ? FTLD Gallo M1, Tomaino C, Puccio G, Frangipane F, Curcio SA, Bernardi L, Geracitano S, Anfossi M, Mirabelli M, Colao R, Vasso F, Smirne N, Maletta RG, Bruni AC.(2010) - - 1 Y Yang
./. 7 c.454G>A r.(?) p.(Ala152Thr) - - Unknown g.44068850G>A Kovacs GG et al.(2011) MAPT_000053 - ? ? FTLD Kovacs GG et al.(2011) - A 63-year-old man 1 XY Liu
./. 7 c.454G>A r.(?) p.(Ala152Thr) - - Unknown g.44068850G>A Coppola G et al. (2012) MAPT_000053 - ? ? AD, FTLD Coppola G et al. (2012) - increasing the risk 1 XY Liu
./. 7 c.454G>A r.(?) p.(Ala152Thr) - - Unknown g.44068850G>A Lee SE et aL. (2013) MAPT_000053 - ? ? AD, FTLD Lee SE et aL. (2013) - - 1 XY Liu
./. 7 c.454G>A r.(?) p.(Ala152Thr) - - Unknown g.44068850G>A Pastor P et al. (2016) MAPT_000053 - ? ? FTLD Pastor P et al. (2016) - - 1 XY Liu
./. 7 c.454G>A r.(?) p.(Ala152Thr) - - Unknown g.44068850G>A Pir GJ et al. (2016) MAPT_000053 - ? ? FTLD, PSP Pir GJ et al. (2016) - a risk factor 1 XY Liu
./. 8 c.770A>C r.(?) p.(Lys257Thr) - - Unknown g.44073978A>C Rizzini C1, Goedert M, Hodges JR, Smith MJ, Jakes R, Hills R, Xuereb JH, Crowther RA, Spillantini MG.(2000) MAPT_000018 - ? ? FTLD Rizzini C1, Goedert M, Hodges JR, Smith MJ, Jakes R, Hills R, Xuereb JH, Crowther RA, Spillantini MG.(2000) - - 1 Y Yang
./. 8 c.778A>G r.(?) p.(Ile260Val) - - Unknown g.44073986A>G Grover A et al. (2003) MAPT_000064 - ? ? FTLD Grover A et al. (2003) - - 1 XY Liu
./. 8 c.796C>G r.(?) p.(Leu266Val) - - Unknown g.44074004C>G Kobayashi T1, Ota S, Tanaka K, Ito Y, Hasegawa M, Umeda Y, Motoi Y, Takanashi M, Yasuhara M, Anno M, Mizuno Y, Mori H.(2003) MAPT_000016 - ? ? FTLD Kobayashi T1, Ota S, Tanaka K, Ito Y, Hasegawa M, Umeda Y, Motoi Y, Takanashi M, Yasuhara M, Anno M, Mizuno Y, Mori H.(2003) - - 1 Y Yang
./. 8 c.815G>T r.(?) p.(Gly272Val) - - Unknown g.44074023G>T Heutink P1, Stevens M, Rizzu P, Bakker E, Kros JM, Tibben A, Niermeijer MF, van Duijn CM, Oostra BA, van Swieten JC.(1997) MAPT_000002 - ? ? FTLD Heutink P1, Stevens M, Rizzu P, Bakker E, Kros JM, Tibben A, Niermeijer MF, van Duijn CM, Oostra BA, van Swieten JC.(1997) - - 1 Y Yang
./. 8 c.817G>C r.(?) p.(Gly273Arg) - - Unknown g.44074025G>C van der Zee J et al. (2006) MAPT_000065 - ? ? FTLD van der Zee J et al. (2006) - - 1 XY Liu
./. 9 c.837T>A r.(?) p.(Asn279Lys) - - Unknown g.44087690T>A Clark LN1, Poorkaj P, Wszolek Z, Geschwind DH, Nasreddine ZS, Miller B, Li D, Payami H, Awert F, Markopoulou K, Andreadis A, D'Souza I, Lee VM, Reed L, Trojanowski JQ, Zhukareva V, Bird T, Schellenberg G, Wilhelmsen KC.(1998) MAPT_000010 - ? ? FTLD "Clark LN1, Poorkaj P, Wszolek Z, Geschwind DH, Nasreddine ZS, Miller B, Li D, Payami H, Awert F, Markopoulou K, Andreadis A, D'Souza I, Lee VM, Reed L, Trojanowski JQ, Bird T.(1998) - - 1 Y Yang
./. 9 c.837T>A r.(?) p.(Asn279Lys) - - Unknown g.44087690T>A Whitwell JL et al. (2011) MAPT_000010 - ? ? FTLD Whitwell JL et al. (2011) - - 1 XY Liu
./. 9 c.837T>A r.(?) p.(Asn279Lys) - - Unknown g.44087690T>A Wren MC et al. (2015),dbSNP MAPT_000010 - ? ? FTLD Wren MC et al. (2015) - - 1 XY Liu
./. 9 c.837T>A r.(?) p.(Asn279Lys) - - Unknown g.44087690T>A Takada LT et al. (2016) MAPT_000010 - ? ? FTLD Takada LT et al. (2016) - - 1 XY Liu
./. 9 c.837T>A r.(?) p.(Asn279Lys) - - Unknown g.44087690T>A Hallmann AL et al. (2017) MAPT_000010 - ? ? FTLD Hallmann AL et al. (2017) - - 1 XY Liu
./. 10 c.838_840delAAG r.(?) p.(Lys280del) - - Unknown g.44087691_44087693delAAG Rizzu P et al. (1999) MAPT_000074 - ? ? FTLD Rizzu P et al. (1999) - - 1 XY Liu
./. 9 c.851T>G r.(?) p.(Leu284Arg) - - Unknown g.44087704T>G Rohrer JD1, Paviour D, Vandrovcova J, Hodges J, de Silva R, Rossor MN.(2011) MAPT_000044 - ? ? PSP Rohrer JD1, Paviour D, Vandrovcova J, Hodges J, de Silva R, Rossor MN.(2011) - - 1 Y Yang
./. 9 c.886A>C r.(?) p.(Asn296His) - - Unknown g.44087739A>C Iseki E1, Matsumura T, Marui W, Hino H, Odawara T, Sugiyama N, Suzuki K, Sawada H, Arai T, Kosaka K.(2001) MAPT_000019 - ? ? FTLD Iseki E1, Matsumura T, Marui W, Hino H, Odawara T, Sugiyama N, Suzuki K, Sawada H, Arai T, Kosaka K.(2001) - - 1 Y Yang
./. 9 c.886A>G r.(?) p.(Asn296Asp) - - Unknown g.44087739A>G Cohn-Hokke PE et al. (2014) MAPT_000066 - ? ? FTLD Cohn-Hokke PE et al. (2014) - - 1 XY Liu
./. 9 c.888T>A r.(?) p.(Asn296Lys) - - Unknown g.44087741T>A Brown J1, Lantos PL, Roques P, Fidani L, Rossor MN.(1996) MAPT_000013 - ? ? FTLD Brown J1, Lantos PL, Roques P, Fidani L, Rossor MN.(1996) - - 1 Y Yang
./. 9 c.888T>A r.(?) p.(Asn296Lys) - - Unknown g.44087741T>A Pastor P1, Pastor E, Carnero C, Vela R, García T, Amer G, Tolosa E, Oliva R.(2001) MAPT_000013 - ? ? PSP Pastor P1, Pastor E, Carnero C, Vela R, García T, Amer G, Tolosa E, Oliva R.(2001) - - 1 Y Yang
./. 9 c.901C>A r.(?) p.(Pro301Thr) - - Unknown g.44087754C>A Lladó A, Ezquerra M, Sánchez-Valle R, Rami L, Tolosa E, Molinuevo JL.(2007) MAPT_000008 - ? ? FTLD Lladó A, Ezquerra M, Sánchez-Valle R, Rami L, Tolosa E, Molinuevo JL.(2007) - - 1 Y Yang
./. 9 c.901C>T r.(?) p.(Pro301Ser) - - Unknown g.44087754C>T Sperfeld AD1, Collatz MB, Baier H, Palmbach M, Storch A, Schwarz J, Tatsch K, Reske S, Joosse M, Heutink P, Ludolph AC.(1999) MAPT_000012 - ? ? FTLD Sperfeld AD1, Collatz MB, Baier H, Palmbach M, Storch A, Schwarz J, Tatsch K, Reske S, Joosse M, Heutink P, Ludolph AC.(1999) - - 1 Y Yang
./. 9 c.901C>T r.(?) p.(Pro301Ser) - - Unknown g.44087754C>T Bellucci A et al. (2011) MAPT_000012 - ? ? FTLD Bellucci A et al. (2011) - - 1 XY Liu
./. 9 c.902C>T r.(?) p.(Pro301Leu) - - Unknown g.44087755C>T Heutink P1, Stevens M, Rizzu P, Bakker E, Kros JM, Tibben A, Niermeijer MF, van Duijn CM, Oostra BA, van Swieten JC.(1997) MAPT_000001 - ? ? FTLD Heutink P1, Stevens M, Rizzu P, Bakker E, Kros JM, Tibben A, Niermeijer MF, van Duijn CM, Oostra BA, van Swieten JC.(1997) - - 1 Y Yang
./. 9 c.902C>T r.(?) p.(Pro301Leu) - - Unknown g.44087755C>T Donker Kaat L1, Boon AJ, Azmani A, Kamphorst W, Breteler MM, Anar B, Heutink P, van Swieten JC.(2009) MAPT_000001 - ? ? PSP Donker Kaat L1, Boon AJ, Azmani A, Kamphorst W, Breteler MM, Anar B, Heutink P, van Swieten JC.(2009) - - 1 Y Yang
./. 9 c.902C>T r.(?) p.(Pro301Leu) - - Unknown g.44087755C>T Whitwell JL et al. (2011) MAPT_000001 - ? ? FTLD Whitwell JL et al. (2011) - - 1 XY Liu
./. 9 c.902C>T r.(?) p.(Pro301Leu) - - Unknown g.44087755C>T Schulz KL et al. (2012) MAPT_000001 - ? ? FTLD Schulz KL et al. (2012) - - 1 XY Liu
./. 9 c.902C>T r.(?) p.(Pro301Leu) - - Unknown g.44087755C>T Sitek EJ et al. (2014) MAPT_000001 - ? ? FTLD Sitek EJ et al. (2014) - parkinsonism 1 XY Liu
./. 9 c.902C>T r.(?) p.(Pro301Leu) - - Unknown g.44087755C>T Kimura T et al. (2013) MAPT_000001 - ? ? FTLD Kimura T et al. (2013) - - 1 XY Liu
./. 9 c.902C>T r.(?) p.(Pro301Leu) - - Unknown g.44087755C>T Rasmussen MA et al. (2016) MAPT_000001 - ? ? FTLD Rasmussen MA et al. (2016) - - 1 XY Liu
./. 9 c.902C>T r.(?) p.(Pro301Leu) - - Unknown g.44087755C>T Nimsanor N et aL. (2016) MAPT_000001 - ? ? FTLD Nimsanor N et aL. (2016) - 57-year-old female 1 XY Liu
./. 9 c.903G>A r.(=) p.(=) - - Unknown g.44087756G>A Miyamoto K et al. (2011) MAPT_000067 - ? ? FTLD Miyamoto K et al. (2011) - - 1 XY Liu
./. 9 c.908G>T r.(?) p.(Gly303Val) - - Unknown g.44087761G>T Ros R1, Thobois S, Streichenberger N, Kopp N, Sánchez MP, Pérez M, Hoenicka J, Avila J, Honnorat J, de Yébenes JG.(2005) MAPT_000043 - ? ? PSP Ros R1, Thobois S, Streichenberger N, Kopp N, Sánchez MP, Pérez M, Hoenicka J, Avila J, Honnorat J, de Yébenes JG.(2005) - - 1 Y Yang
./. 9 c.914G>A r.(?) p.(Ser305Asn) - - Unknown g.44087767G>A Iijima M1, Tabira T, Poorkaj P, Schellenberg GD, Trojanowski JQ, Lee VM, Schmidt ML, Takahashi K, Nabika T, Matsumoto T, Yamashita Y, Yoshioka S, Ishino H.(1999) MAPT_000011 - ? ? FTLD Iijima M1, Tabira T, Poorkaj P, Schellenberg GD, Trojanowski JQ, Lee VM, Schmidt ML, Takahashi K, Nabika T, Matsumoto T, Yamashita Y, Yoshioka S, Ishino H.(1999) - - 1 Y Yang
./. 9 c.914G>A r.(?) p.(Ser305Asn) - - Unknown g.44087767G>A Whitwell JL et al. (2011) MAPT_000011 - ? ? FTLD Whitwell JL et al. (2011) - - 1 XY Liu
./. 9 c.914G>T r.(?) p.(Ser305Ile) - - Unknown g.44087767G>T Nimsanor N et al. (2016) MAPT_000059 - ? ? FTLD Nimsanor N et al. (2016) - - 1 XY Liu
./. IVS10 c.915+11T>C r.(=) p.(=) - - Unknown g.44087779T>C Miyamoto K et al. (2011) MAPT_000035 - ? ? FTLD Miyamoto K et al. (2011) - - 1 XY Liu
./. IVS10 c.915+15A>C r.(=) p.(=) - - Unknown g.44087783A>C McCarthy A et al. (2015) MAPT_000075 - ? ? FTLD McCarthy A et al. (2015） - - 1 XY Liu
./. IVS10 c.915+16C>T r.(=) p.(=) - - Unknown g.44087784C>T Takada LT et al. (2016) MAPT_000031 - ? ? FTLD Takada LT et al. (2016) - - 1 XY Liu
./. 10 c.944T>G r.(?) p.(Leu315Arg) - - Unknown g.44091637T>G van Herpen E et al. (2003) MAPT_000068 - ? ? FTLD van Herpen E et al. (2003) - - 1 XY Liu
./. 10 c.950A>T r.(?) p.(Lys317Met) - - Unknown g.44091643A>T Zarranz JJ1, Ferrer I, Lezcano E, Forcadas MI, Eizaguirre B, Atarés B, Puig B, Gómez-Esteban JC, Fernández-Maiztegui C, Rouco I, Pérez-Concha T, Fernández M, Rodríguez O, Rodríguez-Martínez AB, de Pancorbo MM(2005) MAPT_000017 - ? ? FTLD "Zarranz JJ1, Ferrer I, Lezcano E, Forcadas MI, Eizaguirre B, Atarés B, Puig B, Gómez-Esteban JC, Fernández-Maiztegui C, Rouco I, Pérez-Concha T, Fernández M, Rodríguez O(2005) - - 1 Y Yang
./. 10 c.959C>T r.(?) p.(Ser320Phe) - - Unknown g.44091652C>T Rosso SM1, van Herpen E, Deelen W, Kamphorst W, Severijnen LA, Willemsen R, Ravid R, Niermeijer MF, Dooijes D, Smith MJ, Goedert M, Heutink P, van Swieten JC.(2002) MAPT_000005 - ? ? FTLD Rosso SM1, van Herpen E, Deelen W, Kamphorst W, Severijnen LA, Willemsen R, Ravid R, Niermeijer MF, Dooijes D, Smith MJ, Goedert M, Heutink P, van Swieten JC.(2002) - - 1 Y Yang
./. 10 c.994C>T r.(?) p.(Pro332Ser) - - Unknown g.44091687C>T Deramecourt V et al. (2012) MAPT_000069 - ? ? FTLD Deramecourt V et al. (2012) - - 1 XY Liu
./. 11 c.1003G>A r.(?) p.(Gly335Ser) - - Unknown g.44095989G>A Spina S et al. (2007) MAPT_000070 - ? ? FTLD Spina S et al. (2007) - - 1 XY Liu
./. 11 c.1004G>T r.(?) p.(Gly335Val) - - Unknown g.44095990G>T Neumann M1, Diekmann S, Bertsch U, Vanmassenhove B, Bogerts B, Kretzschmar HA.(2005) MAPT_000006 - ? ? FTLD Neumann M1, Diekmann S, Bertsch U, Vanmassenhove B, Bogerts B, Kretzschmar HA.(2005) - - 1 Y Yang
./. 11 c.1007A>G r.(?) p.(Gln336Arg) - - Unknown g.44095993A>G Pickering-Brown SM1, Baker M, Nonaka T, Ikeda K, Sharma S, Mackenzie J, Simpson SA, Moore JW, Snowden JS, de Silva R, Revesz T, Hasegawa M, Hutton M, Mann DM.(2004) MAPT_000021 - ? ? FTLD Pickering-Brown SM1, Baker M, Nonaka T, Ikeda K, Sharma S, Mackenzie J, Simpson SA, Moore JW, Snowden JS, de Silva R, Revesz T, Hasegawa M, Hutton M, Mann DM.(2004) - - 1 Y Yang
./. 11 c.1008G>T r.(?) p.(Gln336His) - - Unknown g.44095994G>T Tacik P et al. (2015) MAPT_000071 - ? ? FTLD Tacik P et al. (2015) - - 1 XY Liu
./. 11 c.1009G>A r.(?) p.(Val337Met) - - Unknown g.44095995G>A Poorkaj P1, Bird TD, Wijsman E, Nemens E, Garruto RM, Anderson L, Andreadis A, Wiederholt WC, Raskind M, Schellenberg GD.(1998) MAPT_000009 - ? ? FTLD Poorkaj P1, Bird TD, Wijsman E, Nemens E, Garruto RM, Anderson L, Andreadis A, Wiederholt WC, Raskind M, Schellenberg GD.(1998) - - 1 Y Yang
./. 11 c.1009G>A r.(?) p.(Val337Met) - - Unknown g.44095995G>A Domoto-Reilly K et al. (2017) MAPT_000009 - ? ? FTLD Domoto-Reilly K et al. (2017) - - 1 XY Liu
./. 11 c.1009G>A r.(?) p.(Val337Met) - - Unknown g.44095995G>A Spina S et al. (2017) MAPT_000009 - ? ? FTLD Spina S et al. (2017) - - 1 XY Liu
./. 11 c.1025A>T r.(?) p.(Glu342Val) - - Unknown g.44096011A>T Lippa CF1, Zhukareva V, Kawarai T, Uryu K, Shafiq M, Nee LE, Grafman J, Liang Y, St George-Hyslop PH, Trojanowski JQ, Lee VM.(2000) MAPT_000014 - ? ? FTLD Lippa CF1, Zhukareva V, Kawarai T, Uryu K, Shafiq M, Nee LE, Grafman J, Liang Y, St George-Hyslop PH, Trojanowski JQ, Lee VM.(2000) - - 1 Y Yang
?/. 11 c.1043A>G r.(1043a>g) p.(Asp348Gly) - - Unknown g.44096029A>G Paola Origone, et al. (2018) MAPT_000076 - ? ? ALS Paola Origone, et al. (2018) Italian - 1 XY Liu
./. 11 c.1052A>G r.(?) p.(Gln351Arg) - - Unknown g.44096038A>G Liang Y et al. (2014) MAPT_000057 - ? ? FTLD Liang Y et al. (2014) - - 1 XY Liu
./. 11 c.1066T>A r.(?) p.(Ser356Thr) - - Unknown g.44096052T>A Momeni P1, Wickremaratchi MM, Bell J, Arnold R, Beer R, Hardy J, Revesz T, Neal JW, Morris HR.(2010) MAPT_000023 - ? ? FTLD Momeni P1, Wickremaratchi MM, Bell J, Arnold R, Beer R, Hardy J, Revesz T, Neal JW, Morris HR.(2010) - - 1 Y Yang
./. 11 c.1087G>A r.(?) p.(Val363Ile) - - Unknown g.44096073G>A Anfossi M1, Bernardi L, Gallo M, Geracitano S, Colao R, Puccio G, Curcio SA, Frangipane F, Mirabelli M, Tomaino C, Smirne N, Maletta R, Bruni AC.(2011) MAPT_000024 - ? ? FTLD Anfossi M1, Bernardi L, Gallo M, Geracitano S, Colao R, Puccio G, Curcio SA, Frangipane F, Mirabelli M, Tomaino C, Smirne N, Maletta R, Bruni AC.(2011) - - 1 Y Yang
./. 11 c.1087G>A r.(?) p.(Val363Ile) - - Unknown g.44096073G>A Anfossi M et aL. (2011) MAPT_000024 - ? ? FTLD Anfossi M et aL. (2011) - - 1 XY Liu
./. 11 c.1090C>T r.(?) p.(Pro364Ser) - - Unknown g.44096076C>T Rossi G et al. (2012) MAPT_000072 - ? ? FTLD Rossi G et al. (2012) - - 1 XY Liu
./. 11 c.1096G>C r.(?) p.(Gly366Arg) - - Unknown g.44096082G>C Rossi G et al. (2012) MAPT_000073 - ? ? FTLD Rossi G et al. (2012) - - 1 XY Liu
./. 11 c.1106A>T r.(?) p.(Lys369Ile) - - Unknown g.44096092A>T Neumann M1, Schulz-Schaeffer W, Crowther RA, Smith MJ, Spillantini MG, Goedert M, Kretzschmar HA.(2001) MAPT_000020 - ? ? FTLD Neumann M1, Schulz-Schaeffer W, Crowther RA, Smith MJ, Spillantini MG, Goedert M, Kretzschmar HA.(2001) - - 1 Y Yang
./. 12 c.1165G>A r.(?) p.(Gly389Arg) - - Unknown g.44101376G>A Sun L et al. (2017) MAPT_000060 - ? ? FTLD Sun L et al. (2017) - - 1 XY Liu
./. 12 c.1165G>C r.(?) p.(Gly389Arg) - - Unknown g.44101376G>C Sobrido MJ1, Miller BL, Havlioglu N, Zhukareva V, Jiang Z, Nasreddine ZS, Lee VM, Chow TW, Wilhelmsen KC, Cummings JL, Wu JY, Geschwind DH.(2003) MAPT_000004 - ? ? FTLD Sobrido MJ1, Miller BL, Havlioglu N, Zhukareva V, Jiang Z, Nasreddine ZS, Lee VM, Chow TW, Wilhelmsen KC, Cummings JL, Wu JY, Geschwind DH.(2003) - - 1 Y Yang
./. 12 c.1165G>C r.(?) p.(Gly389Arg) - - Unknown g.44101376G>C Whitwell JL et al. (2011) MAPT_000004 - ? ? FTLD Whitwell JL et al. (2011) - - 1 XY Liu
./. 12 c.1216C>T r.(?) p.(Arg406Trp) - - Unknown g.44101427C>T Reed LA1, Grabowski TJ, Schmidt ML, Morris JC, Goate A, Solodkin A, Van Hoesen GW, Schelper RL, Talbot CJ, Wragg MA, Trojanowski JQ.(1997) MAPT_000003 - ? ? FTLD Reed LA1, Grabowski TJ, Schmidt ML, Morris JC, Goate A, Solodkin A, Van Hoesen GW, Schelper RL, Talbot CJ, Wragg MA, Trojanowski JQ.(1997) - - 1 Y Yang
./. 8 c.1216C>T r.(?) p.(Arg406Trp) - - Unknown g.44101427C>T Smith R et al. (2016) MAPT_000052 - ? ? AD Smith R et al. (2016) - Risk loci 1 XY Liu
./. 12 c.1216C>T r.(?) p.(Arg406Trp) - - Unknown g.44101427C>T Ikeuchi T et al. (2011) MAPT_000003 - ? ? FTLD Ikeuchi T et al. (2011) - with parkinsonism 1 XY Liu
./. 12 c.1216C>T r.(?) p.(Arg406Trp) - - Unknown g.44101427C>T Gauthier-Kemper A et al. (2011) MAPT_000003 - ? ? FTLD Gauthier-Kemper A et al. (2011) - - 1 XY Liu
./. 12 c.1216C>T r.(?) p.(Arg406Trp) - - Unknown g.44101427C>T Kimura T et al. (2013) MAPT_000003 - ? ? FTLD Kimura T et al. (2013) - - 1 XY Liu
./. 12 c.1216C>T r.(?) p.(Arg406Trp) - - Unknown g.44101427C>T Ishida C et al. (2015) MAPT_000003 - ? ? FTLD Ishida C et al. (2015) - - 1 XY Liu
./. 12 c.1216C>T r.(?) p.(Arg406Trp) - - Unknown g.44101427C>T Behnam M et al. (2015) MAPT_000003 - ? ? FTLD Behnam M et al. (2015) - - 1 XY Liu
./. 12 c.1216C>T r.(?) p.(Arg406Trp) - - Unknown g.44101427C>T Rasmussen MA et al. (2016) MAPT_000003 - ? ? FTLD Rasmussen MA et al. (2016) - - 1 XY Liu
./. 12 c.1216C>T r.(?) p.(Arg406Trp) - - Unknown g.44101427C>T Nimsanor N et al. (2016) MAPT_000003 - ? ? FTLD Nimsanor N et al. (2016) - 59-year-old female patient 1 XY Liu
./. 12 c.1216C>T r.(?) p.(Arg406Trp) - - Unknown g.44101427C>T Nimsanor N et al. (2016) MAPT_000003 - ? ? FTLD Nimsanor N et al. (2016) - 28-year-old woman 1 XY Liu
./. 12 c.1280C>T r.(?) p.(Thr427Met) - - Unknown g.44101491C>T Giaccone G, Rossi G, Farina L, Marcon G, Di Fede G, Catania M, Morbin M, Sacco L, Bugiani O, Tagliavini F.(2005) MAPT_000007 - ? ? FTLD Giaccone G, Rossi G, Farina L, Marcon G, Di Fede G, Catania M, Morbin M, Sacco L, Bugiani O, Tagliavini F.(2005) - - 1 Y Yang
Legend   How to query  

  Powered by LOVD v.3.0 Build 29
LOVD software ©2004-2023 Leiden University Medical Center 		There are currently no updates.