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CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria.Academic Article Why?
Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.Academic Article Why?
Mitochondrial DiseasesConcept Why?
Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene.Academic Article Why?
Gannon, JenniferPerson Why?
Farrow, EmilyPerson Why?
Soden, SarahPerson Why?
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