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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRPH

Variant:p.A69delFs

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PRPH

NM_006262.4:p.A69delFs

hg38:chr12:49295404 CG>C

Associated Papers

High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.

Manes G et al.

American Journal of Ophthalmology, 2015

25447119 (PubMed )

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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."