Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.Q1672*
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EYS

NM_001142800.2:p.Q1672*

Associated Papers

Five major sequence variants and copy number variants in the EYS gene account for one-third of Japanese patients with autosomal recessive and simplex retinitis pigmentosa.

Iwanami M et al.

Molecular Vision, 2019

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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."