Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E1071*
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RPGR

NM_001034853.2:p.E1071*

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

Analysis of RP2 and RPGR Mutations in Five X-Linked Chinese Families with Retinitis Pigmentosa.

Jiang J et al.

Scientific Reports, 2017

The carboxyl terminal mutational hotspot of the ciliary disease protein RPGRORF15 (retinitis pigmentosa GTPase regulator) is glutamylated in vivo.

Rao KN et al.

Biology Open, 2016

Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development.

Ghosh AK et al.

Human Molecular Genetics, 2010

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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."