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ATM c.99G>C ;(p.L33=)
Variant ID: 11-108098529-G-C
NM_000051.3(
ATM
):c.99G>C;(p.L33=)
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:
Reduced recruitment of 53BP1 during interstrand crosslink repair is associated with genetically inherited attenuation of mitomycin C sensitivity in a family with Fanconi anemia.
Oncotarget
Lesport, Emilie E; Ferster, Alina A; Biver, Armand A; Roch, Benoit B; Vasquez, Nadia N; Jabado, Nada N; Vives, Francina Langa FL; Revy, Patrick P; Soulier, Jean J; de Villartay, Jean-Pierre JP
Publication Date: 2018-01-09
Variant appearance in text: ATM: 99G>C
PubMed Link:
29423082
Variant Present in the following documents:
Main text
oncotarget-09-3779.pdf
View BVdb publication page