Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E789fs
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RPGR

NM_001034853.2:p.E789fs

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

Mutation Analysis of the RPGR Gene in a Chinese Cohort.

Liu HL et al.

Frontiers in Genetics, 2022

35432464 (PubMed )
Supplement: DataSheet4.PDF
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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."