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GAA c.766_785del ;(p.Y256Afs*67)
Variant ID: 17-78081429-GTATATCACAGGCCTCGCCGA-G
NM_000152.3(
GAA
):c.766_785del;(p.Y256Afs*67)
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:
Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease.
Jimd Reports
Pena, Loren D M LD; Proia, Alan D AD; Kishnani, Priya S PS
Publication Date: 2015
Variant appearance in text: GAA: 766_785del
PubMed Link:
25763511
Variant Present in the following documents:
Main text
View BVdb publication page