Varaico: Literature-Extracted Genetic Variants

Gene:CYP7B1
Variant:p.L217*
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CYP7B1

NM_004820.5:p.L217*

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

Limited sensitivity of somatosensory evoked potentials as disease monitoring biomarkers in hereditary spastic paraplegias.

Spengler FAM et al.

Plos One, 2025

41218046 (PubMed )
Supplement: pone.0335187.s003.xlsx › Planilha1

Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias.

Giordani GM et al.

Scientific Reports, 2021

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