Varaico: Literature-Extracted Genetic Variants

Gene:SNRNP200
Variant:p.V708I
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SNRNP200

NM_014014.5:p.V708I

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

Spliceosome SNRNP200 Promotes Viral RNA Sensing and IRF3 Activation of Antiviral Response.

Tremblay N et al.

Plos Pathogens, 2016

Genotype and Phenotype Studies in Autosomal Dominant Retinitis Pigmentosa (adRP) of the French Canadian Founder Population.

Coussa RG et al.

Investigative Ophthalmology & Visual Science, 2015

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