Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.Q714R
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P3H1

NM_022356.4:p.Q714R

Associated Papers

Investigation of oral health findings and genotype correlations in osteogenesis imperfecta.

Demir K et al.

Odontology, 2025

A Founder Intronic Variant in P3H1 Likely Results in Aberrant Splicing and Protein Truncation in Patients of Karen Descent with Osteogenesis Imperfecta Type VIII.

Kantaputra PN et al.

Genes, 2023

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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."