Varaico: Literature-Extracted Genetic Variants

Gene:PRPF31
Variant:p.R358Splc
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PRPF31

NM_015629.4:p.R358Splc

Associated Papers

Landscape of pathogenic variants in six pre-mRNA processing factor genes for retinitis pigmentosa based on large in-house data sets and database comparisons.

Wang J et al.

Acta Ophthalmologica, 2022

Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals.

Maltese PE et al.

Frontiers in Genetics, 2022

35836572 (PubMed )
Supplement: Table1.xlsx › Table_S4_Europe

Panel-based genetic testing for inherited retinal disease screening 176 genes.

Sheck LHN et al.

Molecular Genetics & Genomic Medicine, 2021

33749171 (PubMed )
Supplement: MGG3-9-e1663-s001.xlsx › new
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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."