EIF2AK4 c.3802C>T ;(p.Q1268*)

Variant ID: 15-40308745-C-T

NM_001013703.2(EIF2AK4):c.3802C>T;(p.Q1268*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Human Mutation
Machado, Rajiv D RD; Southgate, Laura L; Eichstaedt, Christina A CA; Aldred, Micheala A MA; Austin, Eric D ED; Best, D Hunter DH; Chung, Wendy K WK; Benjamin, Nicola N; Elliott, C Gregory CG; Eyries, Mélanie M; Fischer, Christine C; Gräf, Stefan S; Hinderhofer, Katrin K; Humbert, Marc M; Keiles, Steven B SB; Loyd, James E JE; Morrell, Nicholas W NW; Newman, John H JH; Soubrier, Florent F; Trembath, Richard C RC; Viales, Rebecca Rodríguez RR; Grünig, Ekkehard E
Publication Date: 2015-12

Variant appearance in text: EIF2AK4: 3802C>T; Q1268*
PubMed Link: 26387786
Variant Present in the following documents:
  • Main text
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