Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.E185fs
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PRPF31

NM_015629.4:p.E185fs

Associated Papers

Characterising PRPF31-associated retinal dystrophy: Clinical insights from baseline data in a natural history study.

Eriksen KO et al.

Acta Ophthalmologica, 2025

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.

Colombo L et al.

Investigative Ophthalmology & Visual Science, 2021

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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."