Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E905fs
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RPGR

NM_001034853.2:p.E905fs

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 genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

Consugar MB et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

25412400 (PubMed )
Supplement: NIHMS639026-supplement-Supplementary_Material_-_Main_File.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."