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Human Disease

nuclear type mitochondrial complex I deficiency 21

Term ID
DOID:0112088
Synonyms
  • MC1DN21
Definition
A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NUBPL gene on chromosome 14q12. https://pubmed.ncbi.nlm.nih.gov/20818383/
References
Ontology
Human Disease   ( DOID:0112088 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models