Varaico: Literature-Extracted Genetic Variants

Gene:CYP27B1
Variant:p.Y413C
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CYP27B1

NM_000785.4:p.Y413C

Associated Papers

Does Genotype-Phenotype Correlation Exist in Vitamin D-Dependent Rickets Type IA: Report of 13 New Cases and Review of the Literature.

Kaygusuz SB et al.

Calcified Tissue International, 2021

No evidence for a role of rare CYP27B1 variants in Austrian multiple sclerosis patients.

Reinthaler E et al.

Multiple Sclerosis (houndmills, Basingstoke, England), 2014

Progress in multiple sclerosis genetics.

Goris A et al.

Current Genomics, 2012

Rare variants in the CYP27B1 gene are associated with multiple sclerosis.

Ramagopalan SV et al.

Annals of Neurology, 2011

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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."