RET c.1900_1902delinsAAG ;(p.C634K)

Variant ID: 10-43609948-TGC-AAG

NM_020975.4(RET):c.1900_1902delinsAAG;(p.C634K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Ret function in muscle stem cells points to tyrosine kinase inhibitor therapy for facioscapulohumeral muscular dystrophy.

Elife
Moyle, Louise A LA; Blanc, Eric E; Jaka, Oihane O; Prueller, Johanna J; Banerji, Christopher Rs CR; Tedesco, Francesco Saverio FS; Harridge, Stephen Dr SD; Knight, Robert D RD; Zammit, Peter S PS
Publication Date: 2016-11-14

Variant appearance in text: RET: Cys634Lys
PubMed Link: 27841748
Variant Present in the following documents:
  • Main text
  • elife-11405.pdf
View BVdb publication page



Differential activities of the RET tyrosine kinase receptor isoforms during mammalian embryogenesis.

Genes & Development
de Graaff, E E; Srinivas, S S; Kilkenny, C C; D'Agati, V V; Mankoo, B S BS; Costantini, F F; Pachnis, V V
Publication Date: 2001-09-15

Variant appearance in text: RET: C634K
PubMed Link: 11562352
Variant Present in the following documents:
  • Main text
View BVdb publication page