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PALB2 c.133_134delinsGC ;(p.K45A)
Variant ID: 16-23649248-TT-GC
NM_024675.3(
PALB2
):c.133_134delinsGC;(p.K45A)
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:
Novel RNA and DNA strand exchange activity of the PALB2 DNA binding domain and its critical role for DNA repair in cells.
Elife
Deveryshetty, Jaigeeth J; Peterlini, Thibaut T; Ryzhikov, Mikhail M; Brahiti, Nadine N; Dellaire, Graham G; Masson, Jean-Yves JY; Korolev, Sergey S
Publication Date: 2019-04-29
Variant appearance in text: PALB2: K45A
PubMed Link:
31017574
Variant Present in the following documents:
Main text
elife-44063.pdf
View BVdb publication page