Bibliome.ai browser hg19
Search
About
Stats
FAQ
RET c.2859T>A ;(p.P953=)
Variant ID: 10-43619176-T-A
NM_020975.4(
RET
):c.2859T>A;(p.P953=)
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 novel study of copy number variations in Hirschsprung disease using the multiple ligation-dependent probe amplification (MLPA) technique.
Bmc Medical Genetics
Núñez-Torres, Rocío R; Fernández, Raquel M RM; López-Alonso, Manuel M; Antiñolo, Guillermo G; Borrego, Salud S
Publication Date: 2009-11-19
Variant appearance in text: RET: 2859T>A
PubMed Link:
19925665
Variant Present in the following documents:
Main text
1471-2350-10-119.pdf
View BVdb publication page