Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.S47_A48insFs
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RPGR

NM_001034853.2:p.S47_A48insFs

Associated Papers

Genotype-Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature Review.

Yang J et al.

Frontiers in Genetics, 2021

Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia.

Parmeggiani F et al.

Scientific Reports, 2016

Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes.

Sun W et al.

Investigative Ophthalmology & Visual Science, 2015

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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."