Varaico: Literature-Extracted Genetic Variants

Gene:P3H1
Variant:p.P249delFs
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P3H1

NM_022356.4:p.P249delFs

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

Endplate Lesions of the Lumbar Spine: Biochemistry and Genetics.

Colombini A et al.

Genes, 2025

40725395 (PubMed )
Supplement: genes-16-00738-s001.zip › genes-3684846-supplementary.pdf

Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant.

Zhytnik L et al.

Genes, 2022

35327962 (PubMed )
Supplement: genes-13-00407-s001.zip › genes-1583282-supplementary.pdf

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.

Marini JC et al.

Cell and Tissue Research, 2010

Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.

Cabral WA et al.

Nature Genetics, 2007

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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."