Varaico: Literature-Extracted Genetic Variants

Gene:CYP27B1
Variant:p.S345*
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CYP27B1

NM_000785.4:p.S345*

Associated Papers

Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease.

Méaux MN et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

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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."