Varaico: Literature-Extracted Genetic Variants

Gene:PRPF6
Variant:p.N477S
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PRPF6

NM_012469.4:p.N477S

Associated Papers

The role of splicing factors in retinitis pigmentosa: links to cilia.

Maxwell DW et al.

Biochemical Society Transactions, 2021

The Role of the U5 snRNP in Genetic Disorders and Cancer.

Wood KA et al.

Frontiers in Genetics, 2021

Mutations in spliceosomal proteins and retina degeneration.

Růžičková Š et al.

Rna Biology, 2017

Mutations in the gene DNAJC5 cause autosomal dominant Kufs disease in a proportion of cases: study of the Parry family and 8 other families.

Velinov M et al.

Plos One, 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."