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ATM c.254_255delinsGT ;(p.S85C)
Variant ID: 11-108099973-CA-GT
NM_000051.3(
ATM
):c.254_255delinsGT;(p.S85C)
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:
Matrin3: Disorder and ALS Pathogenesis.
Frontiers In Molecular Biosciences
Salem, Ahmed A; Wilson, Carter J CJ; Rutledge, Benjamin S BS; Dilliott, Allison A; Farhan, Sali S; Choy, Wing-Yiu WY; Duennwald, Martin L ML
Publication Date: 2021
Variant appearance in text: ATM: S85C
PubMed Link:
35083279
Variant Present in the following documents:
Main text
View BVdb publication page