Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.E185*
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PRPF31

NM_015629.4:p.E185*

Associated Papers

Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.

Wheway G et al.

Experimental Eye Research, 2020

The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice.

van Huet RA et al.

Molecular Vision, 2015

Next-generation genetic testing for retinitis pigmentosa.

Neveling K et al.

Human Mutation, 2012

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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."