Varaico: Literature-Extracted Genetic Variants

Gene:CYP27A1
Variant:p.P102delFs
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CYP27A1

NM_000784.4:p.P102delFs

Associated Papers

Systematic Review of Parkinsonism in Cerebrotendinous Xanthomatosis.

Hanson J et al.

Neurology International, 2025

40863986 (PubMed )
Supplement: neurolint-17-00117-s001.zip › neurolint-3738340-supplementary.xlsx › Sheet1

Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis.

Pramparo T et al.

Orphanet Journal of Rare Diseases, 2023

36650582 (PubMed )
Supplement: 13023_2022_2578_MOESM1_ESM.xlsx › 106_Model_AF

Cerebrotendinous xanthomatosis without neurological involvement.

Stelten BML et al.

Journal of Internal Medicine, 2021

Cerebrotendinous xanthomatosis with peripheral neuropathy: a clinical and neurophysiological study in Chinese population.

Zhang S et al.

Annals of Translational Medicine, 2020

c.1263+1G>A Is a Latent Hotspot for CYP27A1 Mutations in Chinese Patients With Cerebrotendinous Xanthomatosis.

Jiang J et al.

Frontiers in Genetics, 2020

Clinical and genetic characteristics of Chinese patients with cerebrotendinous xanthomatosis.

Tao QQ et al.

Orphanet Journal of Rare Diseases, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."