Varaico: Literature-Extracted Genetic Variants

Gene:PRX
Variant:p.R167C
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PRX

NM_181882.3:p.R167C

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

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

Bennett TM et al.

G3 (bethesda, Md.), 2023

Exome sequencing of senescence-accelerated mice (SAM) reveals deleterious mutations in degenerative disease-causing genes.

Tanisawa K et al.

Bmc Genomics, 2013

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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."