Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.F101_F102insFs
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RP2

NM_006915.3:p.F101_F102insFs

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

RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa.

Jayasundera T et al.

Archives of Ophthalmology (chicago, Ill. : 1960), 2010

Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.

Miano MG et al.

Human Mutation, 2001

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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."