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.




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
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