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PC c.1208del ;(p.M403Rfs*41)
Variant ID: 11-66631405-CA-C
NM_001040716.1(
PC
):c.1208del;(p.M403Rfs*41)
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:
Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.
Plos Genetics
Lukas, Jan J; Giese, Anne-Katrin AK; Markoff, Arseni A; Grittner, Ulrike U; Kolodny, Ed E; Mascher, Hermann H; Lackner, Karl J KJ; Meyer, Wolfgang W; Wree, Phillip P; Saviouk, Viatcheslav V; Rolfs, Arndt A
Publication Date: 2013
Variant appearance in text: PC: 1208delT
PubMed Link:
23935525
Variant Present in the following documents:
Main text
View BVdb publication page