Varaico: Literature-Extracted Genetic Variants

Gene:PRPF8
Variant:p.A2328V
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PRPF8

NM_006445.4:p.A2328V

Associated Papers

Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.

Chen TC et al.

Npj Genomic Medicine, 2021

33608557 (PubMed )
Supplement: 41525_2021_180_MOESM2_ESM.xlsx › ___1

Variants in the PRPF8 Gene are Associated with Glaucoma.

Micheal S et al.

Molecular Neurobiology, 2018

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.

Sullivan LS et al.

Investigative Ophthalmology & Visual Science, 2006

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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."