Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.R2137H
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EYS

NM_001142800.2:p.R2137H

Associated Papers

Genetic and clinical findings of panel-based targeted exome sequencing in a northeast Chinese cohort with retinitis pigmentosa.

Sun Y et al.

Molecular Genetics & Genomic Medicine, 2020

The phenotypic variability of HK1-associated retinal dystrophy.

Yuan Z et al.

Scientific Reports, 2017

28765615 (PubMed )
Supplement: 41598_2017_7629_MOESM1_ESM.pdf

Combined genetic and high-throughput strategies for molecular diagnosis of inherited retinal dystrophies.

de Castro-Miró M et al.

Plos One, 2014

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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."