Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.I2784S
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USH2A

NM_206933.4:p.I2784S

Associated Papers

Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations.

Arai Y et al.

Journal of Ophthalmology, 2015

26161267 (PubMed )
Supplement: 819760.f1.pdf

Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population.

Hosono K et al.

Plos One, 2012

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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."