Varaico: Literature-Extracted Genetic Variants

Gene:BCS1L
Variant:p.G354ins1
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BCS1L

NM_001079866.2:p.G354ins1

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 )
Supplement: JIMD-47-1278-s002.xlsx › Supplementary_Table_1

A novel mutation in the ubiquinol-cytochrome c reductase synthesis-like gene associated with complex III deficiency and Björnstad syndrome: A case report.

Liu X et al.

Medicine, 2020

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