RET c.2761G>T ;(p.E921*)

Variant ID: 10-43617424-G-T

NM_020975.4(RET):c.2761G>T;(p.E921*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Organotypic specificity of key RET adaptor-docking sites in the pathogenesis of neurocristopathies and renal malformations in mice.

The Journal Of Clinical Investigation
Jain, Sanjay S; Knoten, Amanda A; Hoshi, Masato M; Wang, Hongtao H; Vohra, Bhupinder B; Heuckeroth, Robert O RO; Milbrandt, Jeffrey J
Publication Date: 2010-03

Variant appearance in text: RET: E921X
PubMed Link: 20160347
Variant Present in the following documents:
  • Main text
View BVdb publication page



A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Bolk, S S; Pelet, A A; Hofstra, R M RM; Angrist, M M; Salomon, R R; Croaker, D D; Buys, C H CH; Lyonnet, S S; Chakravarti, A A
Publication Date: 2000-01-04

Variant appearance in text: RET: E921X
PubMed Link: 10618407
Variant Present in the following documents:
  • Main text
View BVdb publication page