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Molecular and computational analysis of a novel pathogenic variant in emopamil-binding protein (EBP) involved in cholesterol biosynthetic pathway causing a rare male EBP disorder with neurologic defects (MEND syndrome)

Crossref DOI link: https://doi.org/10.1007/s11033-024-10183-7

Published Online: 2025-01-04

Published Print: 2025-12

Update policy: https://doi.org/10.1007/springer_crossmark_policy

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