Bibliome.ai browser hg19
Search
About
Stats
FAQ
RET c.2825G>A ;(p.W942*)
Variant ID: 10-43619142-G-A
NM_020975.4(
RET
):c.2825G>A;(p.W942*)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
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: W942X
PubMed Link:
10618407
Variant Present in the following documents:
Main text
View BVdb publication page