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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CYP27B1

Variant:p.R379Splc

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CYP27B1

NM_000785.4:p.R379Splc

hg38:chr12:57764182 T>C

Associated Papers

Vitamin D Hydroxylation-deficient Rickets Type 1A Misdiagnosed as Normocalcemic Primary Hyperparathyroidism.

Rivero-García P et al.

Jcem Case Reports, 2023

37908980 (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."