Varaico: Literature-Extracted Genetic Variants

Gene:CYP27A1
Variant:p.R127G
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CYP27A1

NM_000784.4:p.R127G

Associated Papers

Clinical and Imaging Profile of Patients with Cerebrotendinous Xanthomatosis - a Video Case Series from India.

Katragadda P et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2024

Cerebrotendinous xanthomatosis presenting with schizophrenia-like disorder: A case report.

Ling CX et al.

World Journal of Psychiatry, 2023

A Preventable Ataxia: Cerebrotendinous Xanthomatosis.

Shaji B et al.

Annals of Indian Academy of Neurology, 0

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