Varaico: Literature-Extracted Genetic Variants

Gene:BCS1L
Variant:p.T331I
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BCS1L

NM_001079866.2:p.T331I

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

[BCS1Neonatal growth retardation and lactic acidosis initiated by novel mutation sites in L gene].

Wang M et al.

Zhonghua Yu Fang Yi Xue Za Zhi [chinese Journal of Preventive Medicine], 2023

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