Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Novel Mitochondrial Translation Optimizer-1 Mutations as a Cause of Hereditary Optic Neuropathy.
Li E et al.
Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2020
Identification of extremely rare mitochondrial disorders by whole exome sequencing.
Seo GH et al.
Journal of Human Genetics, 2019
Targeted next generation sequencing identifies novel pathogenic variants and provides molecular diagnoses in a cohort of pediatric and adult patients with unexplained mitochondrial dysfunction.
Nogueira C et al.
Mitochondrion, 2019
The genotypic and phenotypic spectrum of MTO1 deficiency.
O'Byrne JJ et al.
Molecular Genetics and Metabolism, 2018
Select a paper to view details