Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.D145H
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RS1

NM_000330.4:p.D145H

Associated Papers

Carboxylated nanodiamond-mediated CRISPR-Cas9 delivery of human retinoschisis mutation into human iPSCs and mouse retina.

Yang TC et al.

Acta Biomaterialia, 2020

Cryo-EM of retinoschisin branched networks suggests an intercellular adhesive scaffold in the retina.

Heymann JB et al.

The Journal of Cell Biology, 2019

Genetic analysis and clinical features of X-linked retinoschisis in Chinese patients.

Hu QR et al.

Scientific Reports, 2017

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."