Varaico: Literature-Extracted Genetic Variants

Gene:RP1
Variant:p.L1808P
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RP1

NM_006269.2:p.L1808P

Associated Papers

A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degeneration.

Song D et al.

The American Journal of Pathology, 2014

Differential pattern of RP1 mutations in retinitis pigmentosa.

Zhang X et al.

Molecular Vision, 2010

Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families.

Sullivan LS et al.

Investigative Ophthalmology & Visual Science, 2006

Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.

Bowne SJ et al.

Human Molecular Genetics, 1999

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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."