Varaico: Literature-Extracted Genetic Variants

Gene:PRPF3
Variant:p.K446delFs
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PRPF3

NM_004698.4:p.K446delFs

Associated Papers

High prevalence of mutations affecting the splicing process in a Spanish cohort with autosomal dominant retinitis pigmentosa.

Ezquerra-Inchausti M et al.

Scientific Reports, 2017

28045043 (PubMed )
Supplement: srep39652-s1.pdf
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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."