Varaico: Literature-Extracted Genetic Variants

Gene:NDUFAF6
Variant:p.V280I
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NDUFAF6

NM_152416.4:p.V280I

Associated Papers

Systematic analysis of NDUFAF6 in complex I assembly and mitochondrial disease.

Sung AY et al.

Nature Metabolism, 2024

Severe hypertension caused by 17α-hydroxylase deficiency: A case report.

Zhao Y et al.

Heliyon, 2023

36967917 (PubMed )
Supplement: mmc1.docx

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

Baetens D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27490115 (PubMed )
Supplement: gim2016118x1.zip › Table_S13-S17.xlsx › Table_S13
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