Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.R156G
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RS1

NM_000330.4:p.R156G

Associated Papers

Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.

Martins PM et al.

Investigative Ophthalmology & Visual Science, 2026

41615371 (PubMed )
Supplement: iovs-67-1-62_s003.xlsx › Supplementary_table_2

Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.

Marta A et al.

Npj Genomic Medicine, 2025

39939324 (PubMed )
Supplement: 41525_2025_475_MOESM1_ESM.xlsx › Families

A novel gene mutation in a family with X-linked retinoschisis.

Lai YH et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2015

Genetic and clinical evaluation of juvenile retinoschisis.

Kim JE et al.

Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2009

Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.

Li X et al.

Molecular Vision, 2007

Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families.

Ma X et al.

Japanese Journal of Ophthalmology, 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."