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CP c.343_344delinsTA ;(p.R115*)
Variant ID: 3-148930288-CT-TA
NM_000096.3(
CP
):c.343_344delinsTA;(p.R115*)
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:
Inherited MST1 deficiency underlies susceptibility to EV-HPV infections.
Plos One
Crequer, Amandine A; Picard, Capucine C; Patin, Etienne E; D'Amico, Aurelia A; Abhyankar, Avinash A; Munzer, Martine M; Debré, Marianne M; Zhang, Shen-Ying SY; de Saint-Basile, Geneviève G; Fischer, Alain A; Abel, Laurent L; Orth, Gérard G; Casanova, Jean-Laurent JL; Jouanguy, Emmanuelle E
Publication Date: 2012
Variant appearance in text: CP: R115X
PubMed Link:
22952854
Variant Present in the following documents:
Main text
View BVdb publication page