Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.A23D
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RPGR

NM_001034853.2:p.A23D

Associated Papers

Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa.

Sullivan LS et al.

Investigative Ophthalmology & Visual Science, 2013

Characterization of the self-palmitoylation activity of the transport protein particle component Bet3.

Kümmel D et al.

Cellular and Molecular Life Sciences : Cmls, 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."