Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Why Don't More Mitochondrial Diseases Exhibit Cardiomyopathy?
Singh N et al.
Journal of Cardiovascular Development and Disease, 2023
37103033 (PubMed )
Supplement: jcdd-10-00154-s001.zip › Table_S1.xlsx › GeneData
L-carnitine rescue for neonatal intractable mitochondrial cardiomyopathy.
Toyama Y et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2022
Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.
Palmieri F et al.
Biomolecules, 2020
A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.
Kohda M et al.
Plos Genetics, 2016
26741492 (PubMed )
Supplement: pgen.1005679.s021.xlsx › Prioritized_variants_from_exome
Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26.
Kishita Y et al.
American Journal of Human Genetics, 2015
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