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RB1 c.2281_2282delinsGC ;(p.M761A)
Variant ID: 13-49039203-AT-GC
NM_000321.2(
RB1
):c.2281_2282delinsGC;(p.M761A)
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 cancer derived mutation in the retinoblastoma gene with a distinct defect for LXCXE dependent interactions.
Cancer Cell International
Henley, Shauna A SA; Francis, Sarah M SM; Demone, Jordan J; Ainsworth, Peter P; Dick, Frederick A FA
Publication Date: 2010-03-18
Variant appearance in text: RB1: M761A
PubMed Link:
20298605
Variant Present in the following documents:
Main text
1475-2867-10-8.pdf
View BVdb publication page