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Defective ABCD4 Causes MAHCJ - Ontify

Defective ABCD4 Causes MAHCJ

Instance of the biological pathway in Homo sapiens with Reactome ID (R-HSA-5683329).

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Biological Pathway

https://identifiers.org/reactome:R-H ...

ABC Transporter Disorders

Defects in Cobalamin (B12) Metabolism

Defective ABCD4:LMBRD1 Does Not Transport Cbl From Lysosomal Lumen to Cytosol