Associated Papers
Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update.
Čunátová K et al.
Journal of Inherited Metabolic Disease, 2024
Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome.
Guo W et al.
Nephrology (carlton, Vic.), 2022
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.
Hikmat O et al.
Annals of Clinical and Translational Neurology, 2021
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease.
Oláhová M et al.
Human Molecular Genetics, 2019
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