TTN c.2470C>T ;(p.P824S)

Variant ID: 2-179650370-G-A

NM_001267550.1(TTN):c.2470C>T;(p.P824S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology
Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G
Publication Date: 2017-04

Variant appearance in text: TTN: 2470C>T; P824S
PubMed Link: 28267273
Variant Present in the following documents:
  • MOL2-11-438-s003.xls, sheet 1
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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: P824S
PubMed Link: 26460009
Variant Present in the following documents:
  • Main text
View BVdb publication page