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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYP24A1

Variant:p.K382insFs

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CYP24A1

NM_000782.5:p.K382insFs

hg38:chr20:54158970 T>TA

Associated Papers

3' Untranslated Region Structural Elements in CYP24A1 Are Associated With Infantile Hypercalcemia Type 1.

Ball N et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2023

36625425 (PubMed )

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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."