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PALB2 c.125A>C ;(p.E42A)
Variant ID: 16-23649257-T-G
NM_024675.3(
PALB2
):c.125A>C;(p.E42A)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
PALB2 self-interaction controls homologous recombination.
Nucleic Acids Research
Buisson, RĂ©mi R; Masson, Jean-Yves JY
Publication Date: 2012-11-01
Variant appearance in text: PALB2: E42A
PubMed Link:
22941656
Variant Present in the following documents:
Main text
gks807.pdf
View BVdb publication page
PALB2 is an integral component of the BRCA complex required for homologous recombination repair.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Sy, Shirley M H SM; Huen, Michael S Y MS; Chen, Junjie J
Publication Date: 2009-04-28
Variant appearance in text: PALB2: E42A
PubMed Link:
19369211
Variant Present in the following documents:
Main text
View BVdb publication page