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PC c.1087_1089delinsTGT ;(p.R363C)
Variant ID: 11-66633754-CCG-ACA
NM_001040716.1(
PC
):c.1087_1089delinsTGT;(p.R363C)
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:
Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study.
Orphanet Journal Of Rare Diseases
Andreotti, Giuseppina G; Guarracino, Mario R MR; Cammisa, Marco M; Correra, Antonella A; Cubellis, Maria Vittoria MV
Publication Date: 2010-12-07
Variant appearance in text: PC: R363C
PubMed Link:
21138548
Variant Present in the following documents:
Main text
1750-1172-5-36.pdf
View BVdb publication page