Varaico: Literature-Extracted Genetic Variants

Gene:VDR
Variant:p.H397P
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VDR

NM_000376.3:p.H397P

Associated Papers

Structural and functional insights into Vitamin D receptor mutations: An in-silico investigation of polymorphism-induced resistance.

Lohani M et al.

Biophysical Chemistry, 2026

Molecular insights of vitamin D receptor SNPs and vitamin D analogs: a novel therapeutic avenue for vitiligo.

Sundaravel SS et al.

Molecular Diversity, 2025

Genetic Polymorphisms in Cytochrome P450 Enzymes Involved in Vitamin D Metabolism and the Vitamin D Receptor: Their Clinical Relevance.

Jarrar Y et al.

Journal of Personalized Medicine, 2025

Tooth Development Associated with Mutations in Hereditary Vitamin D-Resistant Rickets.

Hanna AE et al.

Jdr Clinical and Translational Research, 2018

Hereditary vitamin D-resistant rickets in Lebanese patients: the p.R391S and p.H397P variants have different phenotypes.

Andary R et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2017

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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."