Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.A291_C299insFs
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PRPF31

NM_015629.4:p.A291_C299insFs

Associated Papers

Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa.

Rose AM et al.

Scientific Reports, 2016

26781568 (PubMed )
Supplement: srep19450-s1.pdf

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."