Varaico: Literature-Extracted Genetic Variants

Gene:VDR
Variant:p.V26M
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VDR

NM_000376.3:p.V26M

Associated Papers

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

Use of calcimimetics in children with normal kidney function.

VanSickle JS et al.

Pediatric Nephrology (berlin, Germany), 2019

Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia.

Tamura M et al.

Scientific Reports, 2017

Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings.

Ghazi AA et al.

International Journal of Endocrinology and Metabolism, 2017

Relationship of structure and function of DNA-binding domain in vitamin D receptor.

Wan LY et al.

Molecules (basel, Switzerland), 2015

Vitamin D receptor mutations in patients with hereditary 1,25-dihydroxyvitamin D-resistant rickets.

Malloy PJ et al.

Molecular Genetics and Metabolism, 2014

Cell-autonomous regulation of brown fat identity gene UCP1 by unliganded vitamin D receptor.

Malloy PJ et al.

Molecular Endocrinology (baltimore, Md.), 2013

The role of the vitamin D receptor and ERp57 in photoprotection by 1α,25-dihydroxyvitamin D3.

Sequeira VB et al.

Molecular Endocrinology (baltimore, Md.), 2012

Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor.

Malloy PJ et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2011

Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor.

Malloy PJ et al.

Molecular Genetics and Metabolism, 2010

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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."