Varaico: Literature-Extracted Genetic Variants

Gene:VDR
Variant:p.R343C
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VDR

NM_000376.3:p.R343C

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

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

Familial Vitamin D-dependent rickets Type 2A: A report of two cases with alopecia and oral manifestations.

Thakur M

Journal of Oral and Maxillofacial Pathology : Jomfp, 2019

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

Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia.

Tseng MH et al.

Scientific Reports, 2017

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."