Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.S643*
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RPGR

NM_001034853.2:p.S643*

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

34745198 (PubMed )
Supplement: Table_1.XLSX › Sheet1

Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations.

Carrigan M et al.

Scientific Reports, 2016

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

Ellingford JM et al.

Ophthalmology, 2016

26872967 (PubMed )
Supplement: mmc8.pdf

A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.

O'Sullivan J et al.

Journal of Medical Genetics, 2012

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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."