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| Mitochondrial disease v1.16 | NDUFA5 |
Natalie Tan gene: NDUFA5 was added gene: NDUFA5 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: NDUFA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA5 were set to 41916321 Phenotypes for gene: NDUFA5 were set to Complex I deficiency Penetrance for gene: NDUFA5 were set to Complete Review for gene: NDUFA5 was set to GREEN Added comment: PMID:41916321 reports 4 individuals from 3 unrelated families with biallelic variants in NDUFA5, associated with a multi-system mitochondriopathy characterised by a complex I deficiency that was functionally confirmed via transcriptomics, proteomics and respiratory chain enzymology. Sources: Literature |
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