CD4 c.757_759delinsTAA ;(p.T253*)

Variant ID: 12-6925371-ACC-TAA

NM_000616.4(CD4):c.757_759delinsTAA;(p.T253*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.

European Journal Of Human Genetics : Ejhg
Weemaes, Corry M R CM; van Tol, Maarten J D MJ; Wang, Jun J; van Ostaijen-ten Dam, Monique M MM; van Eggermond, Marja C J A MC; Thijssen, Peter E PE; Aytekin, Caner C; Brunetti-Pierri, Nicola N; van der Burg, Mirjam M; Graham Davies, E E; Ferster, Alina A; Furthner, Dieter D; Gimelli, Giorgio G; Gennery, Andy A; Kloeckener-Gruissem, Barbara B; Meyn, Stephan S; Powell, Cynthia C; Reisli, Ismail I; Schuetz, Catharina C; Schulz, Ansgar A; Shugar, Andrea A; van den Elsen, Peter J PJ; van der Maarel, Silvère M SM
Publication Date: 2013-11

Variant appearance in text: CD4: T253X
PubMed Link: 23486536
Variant Present in the following documents:
  • Main text
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