Metadata | |
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ID | DOID:0112093 |
Name | nuclear type mitochondrial complex I deficiency 3 |
Definition | A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS7 gene on chromosome 19p13.3. https://pubmed.ncbi.nlm.nih.gov/10330338/, https://pubmed.ncbi.nlm.nih.gov/17275378/ |
Xrefs | |
Synonyms |
MC1DN3 [EXACT] |
Parent Relationships |