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RB1 c.1353C>G ;(p.R451=)
Variant ID: 13-48953750-C-G
NM_000321.2(
RB1
):c.1353C>G;(p.R451=)
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:
RB1 gene mutation up-date, a meta-analysis based on 932 reported mutations available in a searchable database.
Bmc Genetics
Valverde, José R JR; Alonso, Javier J; Palacios, Itziar I; Pestaña, Angel A
Publication Date: 2005-11-04
Variant appearance in text: RB1: R451R
PubMed Link:
16269091
Variant Present in the following documents:
Main text
1471-2156-6-53.pdf
View BVdb publication page