Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.W675L
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P3H1

NM_022356.4:p.W675L

Associated Papers

Rare Variants in the P3H1 Gene in Patients With Osteogenesis Imperfecta of Bashkir Origin From Russia.

Zaripova AR et al.

Clinical Genetics, 2026

The structural basis for the collagen processing by human P3H1/CRTAP/PPIB ternary complex.

Li W et al.

Nature Communications, 2024

Mutational characterization of the P3H1/CRTAP/CypB complex in recessive osteogenesis imperfecta.

Barbirato C et al.

Genetics and Molecular Research : Gmr, 2015

Osteogenesis imperfecta in Brazilian patients.

Trancozo M et al.

Genetics and Molecular Biology, 0

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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."