PIK3CA c.1772dup ;(p.P592Sfs*5)

Variant ID: 3-178937382-G-GC

NM_006218.2(PIK3CA):c.1772dup;(p.P592Sfs*5)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutations in IRS4 are associated with central hypothyroidism.

Journal Of Medical Genetics
Heinen, Charlotte A CA; de Vries, Emmely M EM; Alders, Mariƫlle M; Bikker, Hennie H; Zwaveling-Soonawala, Nitash N; van den Akker, Erica L T ELT; Bakker, Boudewijn B; Hoorweg-Nijman, Gera G; Roelfsema, Ferdinand F; Hennekam, Raoul C RC; Boelen, Anita A; van Trotsenburg, A S Paul ASP; Fliers, Eric E
Publication Date: 2018-10

Variant appearance in text: PI3K: 1772dup
PubMed Link: 30061370
Variant Present in the following documents:
  • Main text
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