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GAA c.1579_1581delinsTTT ;(p.R527F)
Variant ID: 17-78084767-AGG-TTT
NM_000152.3(
GAA
):c.1579_1581delinsTTT;(p.R527F)
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:
Pompe disease: literature review and case series.
Neurologic Clinics
Dasouki, Majed M; Jawdat, Omar O; Almadhoun, Osama O; Pasnoor, Mamatha M; McVey, April L AL; Abuzinadah, Ahmad A; Herbelin, Laura L; Barohn, Richard J RJ; Dimachkie, Mazen M MM
Publication Date: 2014-08
Variant appearance in text: GAA: R527F
PubMed Link:
25037089
Variant Present in the following documents:
Main text
View BVdb publication page