Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN5
Variant:p.K742*
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GEMIN5

NM_015465.5:p.K742*

Associated Papers

Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment.

Cascajo-Almenara MV et al.

European Journal of Human Genetics : Ejhg, 2024

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."