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ATM c.1426_1427delinsGC ;(p.Q476A)
Variant ID: 11-108121618-CA-GC
NM_000051.3(
ATM
):c.1426_1427delinsGC;(p.Q476A)
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:
Telomerase recruitment in Saccharomyces cerevisiae is not dependent on Tel1-mediated phosphorylation of Cdc13.
Genetics
Gao, Hua H; Toro, Tasha B TB; Paschini, Margherita M; Braunstein-Ballew, Bari B; Cervantes, Rachel B RB; Lundblad, Victoria V
Publication Date: 2010-12
Variant appearance in text: TEL1: Q476A
PubMed Link:
20837994
Variant Present in the following documents:
Main text
View BVdb publication page