Varaico: Literature-Extracted Genetic Variants

Gene:VDR
Variant:p.F47I
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VDR

NM_000376.3:p.F47I

Associated Papers

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

Malloy PJ et al.

Molecular Genetics and Metabolism, 2014

Hereditary 1,25-Dihydroxyvitamin D-resistant rickets.

Malloy PJ et al.

Endocrine Development, 2003

The vitamin D receptor and the syndrome of hereditary 1,25-dihydroxyvitamin D-resistant rickets.

Malloy PJ et al.

Endocrine Reviews, 1999

[An unusual form of primary vitamin D-resistant rickets with hypocalcemia and autosomal-dominant hereditary transmission: hereditary pseudo-deficiency rickets].

PRADER A et al.

Helvetica Paediatrica Acta, 1961

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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."