Varaico: Literature-Extracted Genetic Variants

Gene:VDR
Variant:p.R391H
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VDR

NM_000376.3:p.R391H

Associated Papers

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

Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation.

Faiyaz-Ul-Haque M et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018

Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene.

Mazen I et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2014

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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."