Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.E181K
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PRPF31

NM_015629.4:p.E181K

Associated Papers

Quantitative Choroidal Analysis of Molecularly Characterized Retinitis Pigmentosa.

Stephenson KAJ et al.

Investigative Ophthalmology & Visual Science, 2025

40607868 (PubMed )
Supplement: iovs-66-9-11_s001.pdf

Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.

Birtel J et al.

Plos One, 2018

30543658 (PubMed )
Supplement: pone.0207958.s002.docx

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."