Varaico: Literature-Extracted Genetic Variants

Gene:PRX
Variant:p.V1225M
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PRX

NM_181882.3:p.V1225M

Associated Papers

Abnormal Splicing in the Final Intron of PRX Results in Dominant Congenital Cataract Without Neurological Phenotype.

Reis LM et al.

Investigative Ophthalmology & Visual Science, 2025

Periaxin gene variants are linked to age-related cataracts in Cx46 deficient lenses.

Xia CH et al.

Communications Biology, 2025

Whole-exome sequencing prioritizes candidate genes for hereditary cataract in the Emory mouse mutant.

Bennett TM et al.

G3 (bethesda, Md.), 2023

Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot-Marie-Tooth disease.

Chen CX et al.

Clinical Genetics, 2019

Identification of a PRX variant in a Chinese family with congenital cataract by exome sequencing.

Yuan L et al.

Qjm : Monthly Journal of the Association of Physicians, 2016

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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."