Associated Papers
Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update.
Čunátová K et al.
Journal of Inherited Metabolic Disease, 2024
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants
A novel mutation in BCS1L associated with deafness, tubulopathy, growth retardation and microcephaly.
Jackson CB et al.
European Journal of Pediatrics, 2016
A Turkish BCS1L mutation causes GRACILE-like disorder.
Serdaroğlu E et al.
The Turkish Journal of Pediatrics, 2016
Select a paper to view details