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)
Molecular Biology Reports（2025）
Key words
Hypomorphic variant,Whole exome sequencing,Syndromic ichthyosis,X-linked recessive,Molecular docking
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