Publications:

Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.

Nature Communications

Park, Jun Sung JS; Lee, Junehawk J; Jung, Eun Sun ES; Kim, Myeong-Heui MH; Kim, Il Bin IB; Son, Hyeonju H; Kim, Sangwoo S; Kim, Sanghyeon S; Park, Young Mok YM; Mook-Jung, Inhee I; Yu, Seok Jong SJ; Lee, Jeong Ho JH

Publication Date: 2019-07-12

Variant appearance in text: APP: 964G>T; G322C

PubMed Link: 31300647

Variant Present in the following documents:

• 41467_2019_11000_MOESM16_ESM.xlsx, sheet 2

View BVdb publication page

Somatic variants in autosomal dominant genes are a rare cause of sporadic Alzheimer's disease.

Alzheimer'S & Dementia : The Journal Of The Alzheimer'S Association

Nicolas, Gaël G; Acuña-Hidalgo, Rocío R; Keogh, Michael J MJ; Quenez, Olivier O; Steehouwer, Marloes M; Lelieveld, Stefan S; Rousseau, Stéphane S; Richard, Anne-Claire AC; Oud, Manon S MS; Marguet, Florent F; Laquerrière, Annie A; Morris, Chris M CM; Attems, Johannes J; Smith, Colin C; Ansorge, Olaf O; Al Sarraj, Safa S; Frebourg, Thierry T; Campion, Dominique D; Hannequin, Didier D; Wallon, David D; Gilissen, Christian C; Chinnery, Patrick F PF; Veltman, Joris A JA; Hoischen, Alexander A

Publication Date: 2018-12

Variant appearance in text: APP: 964G>T; Gly322Cys

PubMed Link: 30114415

Variant Present in the following documents:

• Main text
• EMS83060.pdf

View BVdb publication page