Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.K1048insFs
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RPGR

NM_001034853.2:p.K1048insFs

Associated Papers

Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.

Matczyńska E et al.

Biomedicines, 2024

Identification of the RPGR Gene Pathogenic Variants in a Cohort of Polish Male Patients with Retinitis Pigmentosa Phenotype.

Nowomiejska K et al.

Genes, 2023

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

Yang J et al.

Frontiers in Genetics, 2021

34745198 (PubMed )
Supplement: Table_1.XLSX › Sheet1

Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy.

Wawrocka A et al.

Molecular Vision, 2018

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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."