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PALB2 c.530A>G ;(p.K177R)
Variant ID: 16-23647337-T-C
NM_024675.3(
PALB2
):c.530A>G;(p.K177R)
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:
FANCM of the Fanconi anemia core complex is required for both monoubiquitination and DNA repair.
Human Molecular Genetics
Xue, Yutong Y; Li, Yongjiang Y; Guo, Rong R; Ling, Chen C; Wang, Weidong W
Publication Date: 2008-06-01
Variant appearance in text: PALB2: K177R
PubMed Link:
18285517
Variant Present in the following documents:
Main text
View BVdb publication page