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PALB2 c.1840_1841delinsGC ;(p.L614A)
Variant ID: 16-23641634-AA-GC
NM_024675.3(
PALB2
):c.1840_1841delinsGC;(p.L614A)
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:
MRG15-mediated tethering of PALB2 to unperturbed chromatin protects active genes from genotoxic stress.
Proceedings Of The National Academy Of Sciences Of The United States Of America
Bleuyard, Jean-Yves JY; Fournier, Marjorie M; Nakato, Ryuichiro R; Couturier, Anthony M AM; Katou, Yuki Y; Ralf, Christine C; Hester, Svenja S SS; Dominguez, Daniel D; Rhodes, Daniela D; Humphrey, Timothy C TC; Shirahige, Katsuhiko K; Esashi, Fumiko F
Publication Date: 2017-07-18
Variant appearance in text: PALB2: L614A
PubMed Link:
28673974
Variant Present in the following documents:
Main text
View BVdb publication page