Varaico: Literature-Extracted Genetic Variants

Gene:P3H2
Variant:p.E227*
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P3H2

NM_018192.4:p.E227*

Associated Papers

Genetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi Arabia.

AlEissa MM et al.

Genes, 2025

LEPREL1 -RELATED GIANT RETINAL TEAR DETACHMENTS MIMIC THE PHENOTYPE OF OCULAR STICKLER SYNDROME.

Magliyah MS et al.

Retina (philadelphia, Pa.), 2023

Loss of the collagen IV modifier prolyl 3-hydroxylase 2 causes thin basement membrane nephropathy.

Aypek H et al.

The Journal of Clinical Investigation, 2022

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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."