Search Results (3)
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CLPB variants associated with autosomal-recessive mitochondrial disorder with cataract, neutropenia, epilepsy, and methylglutaconic aciduria. | Academic Article |
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Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome. | Academic Article |
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Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) gene. | Academic Article |
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