Varaico: Literature-Extracted Genetic Variants

Gene:VCP
Variant:p.P23H
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VCP

NM_007126.5:p.P23H

Associated Papers

The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy.

Athanasiou D et al.

Progress in Retinal and Eye Research, 2018

Transcriptome profiling of NIH3T3 cell lines expressing opsin and the P23H opsin mutant identifies candidate drugs for the treatment of retinitis pigmentosa.

Chen Y et al.

Pharmacological Research, 2017

Inactivation of VCP/ter94 suppresses retinal pathology caused by misfolded rhodopsin in Drosophila.

Griciuc A et al.

Plos Genetics, 2010

Clearance of Rhodopsin(P23H) aggregates requires the ERAD effector VCP.

Griciuc A et al.

Biochimica Et Biophysica Acta, 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."