BRCA2 c.278_279delinsGG ;(p.S93W)

Variant ID: 13-32893424-CT-GG

NM_000059.3(BRCA2):c.278_279delinsGG;(p.S93W)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.

Embo Molecular Medicine
Wong, Samantha S; Tan, Yu Xuan YX; Loh, Abigail Yi Ting AYT; Tan, Kiat Yi KY; Lee, Hane H; Aziz, Zainab Z; Nelson, Stanley F SF; Özkan, Engin E; Kayserili, Hülya H; Escande-Beillard, Nathalie N; Reversade, Bruno B
Publication Date: 2023-04-17

Variant appearance in text: BRCA2: Ser93Trp
PubMed Link: 37066513
Variant Present in the following documents:
  • EMMM-15-e17078-s005.xlsx, sheet 5
View BVdb publication page