Varaico: Literature-Extracted Genetic Variants

Gene:CYP7B1
Variant:p.D403G
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CYP7B1

NM_004820.5:p.D403G

Associated Papers

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG5

Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families.

Pashaei M et al.

Journal of Neurogenetics, 0

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