HR c.715A>T ;(p.R239*)

Variant ID: 8-21985240-T-A

NM_005144.4(HR):c.715A>T;(p.R239*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome.

Embo Molecular Medicine
Luna-Sánchez, Marta M; Hidalgo-Gutiérrez, Agustín A; Hildebrandt, Tatjana M TM; Chaves-Serrano, Julio J; Barriocanal-Casado, Eliana E; Santos-Fandila, Ángela Á; Romero, Miguel M; Sayed, Ramy Ka RK; Duarte, Juan J; Prokisch, Holger H; Schuelke, Markus M; Distelmaier, Felix F; Escames, Germaine G; Acuña-Castroviejo, Darío D; López, Luis C LC
Publication Date: 2017-01

Variant appearance in text: HR: R239X
PubMed Link: 27856619
Variant Present in the following documents:
  • Main text
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