Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.P192A
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RS1

NM_000330.4:p.P192A

Associated Papers

De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.

Li W et al.

Investigative Ophthalmology & Visual Science, 2023

36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant

X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients.

Pimenides D et al.

Journal of Medical Genetics, 2005

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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."