Varaico: Literature-Extracted Genetic Variants

Gene:CYP27B1
Variant:p.V88fs
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CYP27B1

NM_000785.4:p.V88fs

Associated Papers

Heterozygous CYP27B1 c.262delG pathogenic variant and its impact on vitamin D metabolites and phosphocalcic profile in humans.

Girard L et al.

Frontiers in Physiology, 2025

Targeted sequencing of a pediatric metabolic bone gene panel using a desktop semiconductor next-generation sequencer.

Rauch F et al.

Calcified Tissue International, 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."