Varaico: Literature-Extracted Genetic Variants

Gene:P4HA2
Variant:p.Q140R
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P4HA2

NM_001017974.2:p.Q140R

Associated Papers

Identification of pathogenic variants for the development of ultra-long axial length in myopic children.

Zhu Y et al.

Plos One, 2025

Genetic and clinical landscape of ARR3-associated MYP26: the most common cause of Mendelian early-onset high myopia with a unique inheritance.

Wang Y et al.

The British Journal of Ophthalmology, 2023

36180177 (PubMed )
Supplement: bjo-2022-321511supp006.pdf

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2

An overview of myopia genetics.

Cai XB et al.

Experimental Eye Research, 2019

Expanding the Phenotypic and Genotypic Landscape of Nonsyndromic High Myopia: A Cross-Sectional Study in 731 Chinese Patients.

Cai XB et al.

Investigative Ophthalmology & Visual Science, 2019

Autosomal-dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation.

Napolitano F et al.

Clinical Genetics, 2018

Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia.

Guo H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

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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."