Varaico: Literature-Extracted Genetic Variants

Gene:MYO7A
Variant:p.P23H
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MYO7A

NM_000260.4:p.P23H

Associated Papers

Molecular pathology of Usher 1B patient-derived retinal organoids at single cell resolution.

Leong YC et al.

Stem Cell Reports, 2022

Unravelling the genetics of inherited retinal dystrophies: Past, present and future.

Broadgate S et al.

Progress in Retinal and Eye Research, 2017

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

Gene therapy for PRPH2-associated ocular disease: challenges and prospects.

Conley SM et al.

Cold Spring Harbor Perspectives in Medicine, 2014

Genetic evidence for selective transport of opsin and arrestin by kinesin-II in mammalian photoreceptors.

Marszalek JR et al.

Cell, 2000

Hearing loss in the RBF/DnJ mouse, a proposed animal model of Usher syndrome type IIa.

Pieke-Dahl S et al.

Hearing Research, 1997

Hereditary Retinal Dystrophy.

Hohman TC

Handbook of Experimental Pharmacology, 0

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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."