Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.C63R
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RS1

NM_000330.4:p.C63R

Associated Papers

Case Report: Preventing X-linked retinoschisis transmission via MARSALA-based PGT-M.

Li J et al.

Frontiers in Ophthalmology, 2025

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 and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population.

Kousal B et al.

Genes, 2021

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

Huang L et al.

Molecular Genetics & Genomic Medicine, 2020

An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.

Wang P et al.

Translational Vision Science & Technology, 2019

31106028 (PubMed )
Supplement: tvst-08-02-12_s02.xlsx › FINAL-AD-AR-XL-ONE
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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."