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RB1 c.139_141delinsGAG ;(p.L47E)
Variant ID: 13-48881417-CTT-GAG
NM_000321.2(
RB1
):c.139_141delinsGAG;(p.L47E)
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:
The University of California, San Francisco Documentation System for Retinoblastoma: Preparing to Improve Staging Methods for This Disease.
Ocular Oncology And Pathology
Damato, Bertil B; Afshar, Armin R AR; Everett, Lesley L; Banerjee, Anuradha A; Hetts, Steven W SW
Publication Date: 2019-01
Variant appearance in text: RB1: L47E
PubMed Link:
30675475
Variant Present in the following documents:
Main text
View BVdb publication page