Associated Papers
Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update.
Čunátová K et al.
Journal of Inherited Metabolic Disease, 2024
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2
BCS1L mutations produce Fanconi syndrome with developmental disability.
Kanako KI et al.
Journal of Human Genetics, 2022
Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability.
Sanchis-Juan A et al.
Frontiers in Genetics, 2019
31316545 (PubMed )
Supplement: Table_1.XLSX › Table_S1
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing.
Calvo SE et al.
Science Translational Medicine, 2012
Select a paper to view details