Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E967fs
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RPGR

NM_001034853.2:p.E967fs

Associated Papers

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

Nowomiejska K et al.

Genes, 2023

Whole Genome Sequencing, Focused Assays and Functional Studies Increasing Understanding in Cryptic Inherited Retinal Dystrophies.

Nash BM et al.

International Journal of Molecular Sciences, 2022

Mutation Analysis of the RPGR Gene in a Chinese Cohort.

Liu HL et al.

Frontiers in Genetics, 2022

35432464 (PubMed )
Supplement: DataSheet4.PDF

Analysis of RPGR gene mutations in 41 Chinese families affected by X-linked inherited retinal dystrophy.

Liu X et al.

Frontiers in Genetics, 2022

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

Improved Diagnosis of Inherited Retinal Dystrophies by High-Fidelity PCR of ORF15 followed by Next-Generation Sequencing.

Li J et al.

The Journal of Molecular Diagnostics : Jmd, 2016

ORF15 exon of the RPGR gene in retinitis pigmentosa – technically difficult, diagnostically important.

Ołdak M et al.

Klinika Oczna, 0

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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."