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PALB2 c.26T>A ;(p.L9H)
Variant ID: 16-23652453-A-T
NM_024675.3(
PALB2
):c.26T>A;(p.L9H)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.
Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12
Variant appearance in text: PALB2: 26T>A; L9H; rs515726092
PubMed Link:
34253785
Variant Present in the following documents:
41598_2021_93715_MOESM2_ESM.xlsx, sheet 6
View BVdb publication page
Functional Characterization of PALB2 Variants of Uncertain Significance: Toward Cancer Risk and Therapy Response Prediction.
Frontiers In Molecular Biosciences
Boonen, Rick A C M RACM; Vreeswijk, Maaike P G MPG; van Attikum, Haico H
Publication Date: 2020
Variant appearance in text: PALB2: 26T>A; L9H
PubMed Link:
33195396
Variant Present in the following documents:
fmolb-07-00169.pdf
View BVdb publication page
Functional characterization of 84 PALB2 variants of uncertain significance.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wiltshire, Timothy T; Ducy, Mandy M; Foo, Tzeh Keong TK; Hu, Chunling C; Lee, Kun Y KY; Belur Nagaraj, Anil A; Rodrigue, Amélie A; Gomes, Thiago T TT; Simard, Jacques J; Monteiro, Alvaro N A ANA; Xia, Bing B; Carvalho, Marcelo A MA; Masson, Jean-Yves JY; Couch, Fergus J FJ
Publication Date: 2020-03
Variant appearance in text: PALB2: 26T>A
PubMed Link:
31636395
Variant Present in the following documents:
Main text
41436_2019_Article_682.pdf
View BVdb publication page