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- B935b6b707f486d494d5a82472a2feee4 NCIT_P378 "NCI" @default.
- B935b6b707f486d494d5a82472a2feee4 type Axiom @default.
- B935b6b707f486d494d5a82472a2feee4 annotatedProperty IAO_0000115 @default.
- B935b6b707f486d494d5a82472a2feee4 annotatedSource NCIT_C183526 @default.
- B935b6b707f486d494d5a82472a2feee4 annotatedTarget "An autosomal recessive form of combined methylmalonic aciduria and homocystinuria, caused by mutation(s) in the ABCD4 gene, encoding lysosomal cobalamin transporter ABCD4." @default.