Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.E75*
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RS1

NM_000330.4:p.E75*

Associated Papers

Genotype-Phenotype Associations in an X-Linked Retinoschisis Patient Cohort: The Molecular Dynamic Insight and a Promising SD-OCT Indicator.

Wei X et al.

Investigative Ophthalmology & Visual Science, 2024

38324300 (PubMed )
Supplement: iovs-65-2-17_s001.pdf

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

Huang L et al.

Molecular Genetics & Genomic Medicine, 2020

[X-linked juvenile retinoschisis and XLRS 1 gene abnormality].

Nakazawa M

Nippon Ganka Gakkai Zasshi, 1999

Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change.

Hiriyanna KT et al.

Human Mutation, 1999

Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium.

Unknown Author

Human Molecular Genetics, 1998

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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."