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ATM c.548A>T ;(p.H183L)
Variant ID: 11-108114731-A-T
NM_000051.3(
ATM
):c.548A>T;(p.H183L)
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:
American Society of Pediatric Hematology/Oncology (ASPHO), David L. Lawrence Convention Center, Pittsburgh, PA, May 2-5, 2018.
Pediatric Blood & Cancer
Publication Date: 2018-06
Variant appearance in text: ATM: 548A>T
PubMed Link:
29603868
Variant Present in the following documents:
Main text
View BVdb publication page