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
Hypoketotic hypoglycemia without neuromuscular complications in patients with SLC25A32 deficiency.
Al Shamsi B et al.
European Journal of Human Genetics : Ejhg, 2022
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.
Palmieri F et al.
Biomolecules, 2020
SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance.
Schiff M et al.
The New England Journal of Medicine, 2016
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