Varaico: Literature-Extracted Genetic Variants

Gene:VDR
Variant:p.C41Y
Back to variants list

VDR

NM_000376.3:p.C41Y

Associated Papers

Structural aspects of Vitamin D endocrinology.

Rochel N et al.

Molecular and Cellular Endocrinology, 2017

Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets.

Pang Q et al.

Bone Research, 2016

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

Malloy PJ et al.

Molecular Genetics and Metabolism, 2014

Vitamin D-dependent rickets type II: report of a novel mutation in the vitamin D receptor gene.

Shafeghati Y et al.

Archives of Iranian Medicine, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."