Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.E72Q
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RS1

NM_000330.4:p.E72Q

Associated Papers

Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.

Zaslavsky K et al.

Investigative Ophthalmology & Visual Science, 2025

41342616 (PubMed )
Supplement: iovs-66-15-19_s002.xlsx › SuppTable1

Clinical and genetic features of retinoschisis in 120 families with RS1 mutations.

Xiao S et al.

The British Journal of Ophthalmology, 2023

Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.

Bender C et al.

Genes, 2022

35456481 (PubMed )
Supplement: genes-13-00675-s001.zip › genes-1649451-supplementary.xlsx › Supplementary_Table_S2

Clinical manifestation and genetic analysis in Chinese early onset X-linked retinoschisis.

Huang L et al.

Molecular Genetics & Genomic Medicine, 2020

Molecular genetic characteristics of X-linked retinoschisis in Koreans.

Kim SY et al.

Molecular Vision, 2009

[Identification of mutation of the X-linked juvenile retinoschisis gene].

Yu P et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2001

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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."