Varaico: Literature-Extracted Genetic Variants

Gene:SNRNP200
Variant:p.P682S
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SNRNP200

NM_014014.5:p.P682S

Associated Papers

Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa.

Gerth-Kahlert C et al.

Investigative Ophthalmology & Visual Science, 2019

Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa.

Bowne SJ et al.

Molecular Vision, 2013

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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."