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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYP27B1

Variant:p.E96_L97del2

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CYP27B1

NM_000785.4:p.E96_L97del2

hg38:chr12:57766101 GCAGCTC>G

Associated Papers

Phenotypes and Genotypes of Children with Vitamin D-Dependent Rickets Type 1A: A Single Tertiary Pediatric Center in Vietnam.

Tran TAT et al.

Diagnostics (basel, Switzerland), 2025

40218268 (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."