Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.I222insFs
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PRPF31

NM_015629.4:p.I222insFs

Associated Papers

Alternative splicing and retinal degeneration.

Liu MM et al.

Clinical Genetics, 2013

Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.

Audo I et al.

Orphanet Journal of Rare Diseases, 2012

Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports.

Audo I et al.

Bmc Medical Genetics, 2010

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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."