Varaico: Literature-Extracted Genetic Variants

Gene:P4HA2
Variant:p.K443E
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P4HA2

NM_001017974.2:p.K443E

Associated Papers

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

Zhu Y et al.

Plos One, 2025

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

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."