Varaico: Literature-Extracted Genetic Variants

Gene:PRPF8
Variant:p.A2328E
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PRPF8

NM_006445.4:p.A2328E

Associated Papers

Pre-mRNA splicing and retinitis pigmentosa.

Mordes D et al.

Molecular Vision, 2006

Mutations in the pre-mRNA splicing factor gene PRPC8 in autosomal dominant retinitis pigmentosa (RP13).

McKie AB et al.

Human Molecular Genetics, 2001

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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."