TF c.915C>T ;(p.S305=)

Variant ID: 3-133476657-C-T

NM_001063.3(TF):c.915C>T;(p.S305=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Brain volumetric deficits in MAPT mutation carriers: a multisite study.

Annals Of Clinical And Translational Neurology
Chu, Stephanie A SA; Flagan, Taru M TM; Staffaroni, Adam M AM; Jiskoot, Lize C LC; Deng, Jersey J; Spina, Salvatore S; Zhang, Liwen L; Sturm, Virginia E VE; Yokoyama, Jennifer S JS; Seeley, William W WW; Papma, Janne M JM; Geschwind, Dan H DH; Rosen, Howard J HJ; Boeve, Bradley F BF; Boxer, Adam L AL; Heuer, Hilary W HW; Forsberg, Leah K LK; Brushaber, Danielle E DE; Grossman, Murray M; Coppola, Giovanni G; Dickerson, Bradford C BC; Bordelon, Yvette M YM; Faber, Kelley K; Feldman, Howard H HH; Fields, Julie A JA; Fong, Jamie C JC; Foroud, Tatiana T; Gavrilova, Ralitza H RH; Ghoshal, Nupur N; Graff-Radford, Neill R NR; Hsiung, Ging-Yuek Robin GR; Huey, Edward D ED; Irwin, David J DJ; Kantarci, Kejal K; Kaufer, Daniel I DI; Karydas, Anna M AM; Knopman, David S DS; Kornak, John J; Kramer, Joel H JH; Kukull, Walter A WA; Lapid, Maria I MI; Litvan, Irene I; Mackenzie, Ian R A IRA; Mendez, Mario F MF; Miller, Bruce L BL; Onyike, Chiadi U CU; Pantelyat, Alexander Y AY; Rademakers, Rosa R; Marisa Ramos, Eliana E; Roberson, Erik D ED; Carmela Tartaglia, Maria M; Tatton, Nadine A NA; Toga, Arthur W AW; Vetor, Ashley A; Weintraub, Sandra S; Wong, Bonnie B; Wszolek, Zbigniew K ZK; , ; Van Swieten, John C JC; Lee, Suzee E SE
Publication Date: 2021-01

Variant appearance in text: TF: S305S
PubMed Link: 33247623
Variant Present in the following documents:
  • Main text
  • ACN3-8-95.pdf
View BVdb publication page



Invited review: Frontotemporal dementia caused by microtubule-associated protein tau gene (MAPT) mutations: a chameleon for neuropathology and neuroimaging.

Neuropathology And Applied Neurobiology
Ghetti, B B; Oblak, A L AL; Boeve, B F BF; Johnson, K A KA; Dickerson, B C BC; Goedert, M M
Publication Date: 2015-02

Variant appearance in text: TF: S305S
PubMed Link: 25556536
Variant Present in the following documents:
  • nan0041-0024.pdf
View BVdb publication page



Tau alternative splicing and frontotemporal dementia.

Alzheimer Disease And Associated Disorders
Kar, Amar A; Kuo, David D; He, Rongqiao R; Zhou, Jiawei J; Wu, Jane Y JY
Publication Date: 2005

Variant appearance in text: TF: S305S
PubMed Link: 16317255
Variant Present in the following documents:
  • Main text
View BVdb publication page