Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.I194N
Back to variants list

RS1

NM_000330.4:p.I194N

Associated Papers

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

Novel mutations of the RS1 gene in a cohort of Chinese families with X-linked retinoschisis.

Chen J et al.

Molecular Vision, 2014

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."