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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RS1

Variant:p.I125_D126del1

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RS1

NM_000330.4:p.I125_D126del1

hg38:chrX:18644574 ATCT>A

Associated Papers

Rare eye diseases in India: A concise review of genes and genetics.

Jeyabalan N et al.

Indian Journal of Ophthalmology, 2022

35791102 (PubMed )

Molecular characterization of a rare phenotype of X-linked retinoschisis with angle-closure glaucoma.

Selvan H et al.

Indian Journal of Ophthalmology, 2019

31238476 (PubMed )

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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."