Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.E215V
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RS1

NM_000330.4:p.E215V

Associated Papers

Clinical Exome Sequencing: A Genetic Diagnostic Approach for Inherited Retinal Dystrophies.

Barberán-Martínez P et al.

The Journal of Molecular Diagnostics : Jmd, 2026

Personalised genomic strategies improve diagnostic yield in inherited retinal dystrophies: a stepwise, patient-centred approach.

Esteve-Garcia A et al.

Eye (london, England), 2025

40926010 (PubMed )
Supplement: 41433_2025_3981_MOESM2_ESM.xlsx › Resolved_cohort

X-linked retinoschisis: About a case.

Pineda-Garrido E et al.

Archivos De La Sociedad Espanola De Oftalmologia, 2022

Novel RS1 mutations associated with X-linked juvenile retinoschisis.

Yi J et al.

International Journal of Molecular Medicine, 2012

Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis.

Riveiro-Alvarez R et al.

Investigative Ophthalmology & Visual Science, 2009

Gene symbol: RS1. Disease: Retinoschisis, X-Linked juvenile.

Riveiro-Alvarez R et al.

Human Genetics, 2008

Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.

Riveiro-Alvarez R et al.

Human Genetics, 2005

Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.

Riveiro R et al.

Human Genetics, 2005

Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.

Riveiro R et al.

Human Genetics, 2005

Identification of novel mutations in the XLRS1 gene in Chinese patients with X-linked juvenile retinoschisis.

Zeng M et al.

Current Eye Research, 0

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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."