Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.M58K
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RPGR

NM_001034853.2:p.M58K

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

Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP.

Zhang Q et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

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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."