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
Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome.
Guo W et al.
Nephrology (carlton, Vic.), 2022
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