TTN c.1205C>T ;(p.A402V)

Variant ID: 2-179659689-G-A

NM_001267550.1(TTN):c.1205C>T;(p.A402V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS.

Neurology. Genetics
Tian, Xia X; Liang, Wen-Chen WC; Feng, Yanming Y; Wang, Jing J; Zhang, Victor Wei VW; Chou, Chih-Hung CH; Huang, Hsien-Da HD; Lam, Ching Wan CW; Hsu, Ya-Yun YY; Lin, Thy-Sheng TS; Chen, Wan-Tzu WT; Wong, Lee-Jun LJ; Jong, Yuh-Jyh YJ
Publication Date: 2015-08

Variant appearance in text: TTN: A402V
PubMed Link: 27066551
Variant Present in the following documents:
  • NG2015000224.pdf
View BVdb publication page



Preserved genetic diversity in organoids cultured from biopsies of human colorectal cancer metastases.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Weeber, Fleur F; van de Wetering, Marc M; Hoogstraat, Marlous M; Dijkstra, Krijn K KK; Krijgsman, Oscar O; Kuilman, Thomas T; Gadellaa-van Hooijdonk, Christa G M CG; van der Velden, Daphne L DL; Peeper, Daniel S DS; Cuppen, Edwin P J G EP; Vries, Robert G RG; Clevers, Hans H; Voest, Emile E EE
Publication Date: 2015-10-27

Variant appearance in text: TTN: A402V
PubMed Link: 26460009
Variant Present in the following documents:
  • Main text
View BVdb publication page