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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:UQCRFS1

Variant:p.V72Splc

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UQCRFS1

NM_006003.3:p.V72Splc

hg38:chr19:29208159 C>G

Associated Papers

Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update.

Čunátová K et al.

Journal of Inherited Metabolic Disease, 2024

39053894 (PubMed )

Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts.

Blue EE et al.

Rare (amsterdam, Netherlands), 2024

39421685 (PubMed )

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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."