Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.I81N
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RS1

NM_000330.4:p.I81N

Associated Papers

Identification and molecular characterization of two recurrent missense mutations in the RS1 gene in two families with X-linked retinoschisis from North India.

Chatterjee S et al.

American Journal of Medical Genetics. Part A, 2023

Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options.

Rahman N et al.

The British Journal of Ophthalmology, 2020

Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families.

Simonelli F et al.

The British Journal of Ophthalmology, 2003

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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."