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
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
Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships.
Baker RA et al.
American Journal of Medical Genetics. Part A, 2019
The disrupted balance between hair follicles and sebaceous glands in Hoxc13-ablated rabbits.
Deng J et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019
Exome sequencing reveals novel BCS1L mutations in siblings with hearing loss and hypotrichosis.
Zhang J et al.
Gene, 2015
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