Varaico: Literature-Extracted Genetic Variants

Gene:CYP27B1
Variant:p.A129Splc
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CYP27B1

NM_000785.4:p.A129Splc

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

Novel CYP27B1 Gene Mutations in Patients with Vitamin D-Dependent Rickets Type 1A.

Demir K et al.

Plos One, 2015

Clinical and genetic analysis of patients with vitamin D-dependent rickets type 1A.

Durmaz E et al.

Clinical Endocrinology, 2012

Novel gene mutations in patients with 1alpha-hydroxylase deficiency that confer partial enzyme activity in vitro.

Wang X et al.

The Journal of Clinical Endocrinology and Metabolism, 2002

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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."