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BRCA1 c.994_995delinsTA ;(p.R332*)
Variant ID: 17-41246553-CG-TA
NM_007294.3(
BRCA1
):c.994_995delinsTA;(p.R332*)
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:
Female sex bias in human embryonic stem cell lines.
Stem Cells And Development
Ben-Yosef, Dalit D; Amit, Ami A; Malcov, Mira M; Frumkin, Tsvia T; Ben-Yehudah, Ahmi A; Eldar, Ido I; Mey-Raz, Nava N; Azem, Foad F; Altarescu, Gheona G; Renbaum, Paul P; Beeri, Rachel R; Varshaver, Irit I; Eldar-Geva, Talia T; Epsztejn-Litman, Silvina S; Levy-Lahad, Ephrat E; Eiges, Rachel R
Publication Date: 2012-02-10
Variant appearance in text: BRCA1: R332X
PubMed Link:
21585244
Variant Present in the following documents:
Main text
View BVdb publication page