Varaico: Literature-Extracted Genetic Variants

Gene:PTH
Variant:p.K57delFs
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PTH

NM_000315.4:p.K57delFs

Associated Papers

Molecular Analysis of CYP27B1 Mutations in Vitamin D-Dependent Rickets Type 1A: c.590G > A (p.G197D) Missense Mutation Causes a RNA Splicing Error.

Zou M et al.

Frontiers in Genetics, 2020

Genotype and Phenotype Characteristics in 22 Patients with Vitamin D-Dependent Rickets Type I.

Tahir S et al.

Hormone Research in Paediatrics, 2016

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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."