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RB1 c.985A>G ;(p.K329E)
Variant ID: 13-48941675-A-G
NM_000321.2(
RB1
):c.985A>G;(p.K329E)
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:
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
Human Genetics
Cooper, David N DN; Krawczak, Michael M; Polychronakos, Constantin C; Tyler-Smith, Chris C; Kehrer-Sawatzki, Hildegard H
Publication Date: 2013-10
Variant appearance in text: RB1: Lys329Glu
PubMed Link:
23820649
Variant Present in the following documents:
Main text
439_2013_Article_1331.pdf
View BVdb publication page