Varaico: Literature-Extracted Genetic Variants

Gene:SNRNP200
Variant:p.E767delFs
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SNRNP200

NM_014014.5:p.E767delFs

Associated Papers

Predictive value of genetic testing for inherited retinal diseases in patients with suspected atypical autoimmune retinopathy.

Stanwyck LK et al.

American Journal of Ophthalmology Case Reports, 2019

Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.

Birtel J et al.

Plos One, 2018

30543658 (PubMed )
Supplement: pone.0207958.s002.docx

Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.

Zhao L et al.

Human Genetics, 2015

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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."