Varaico: Literature-Extracted Genetic Variants

Gene:RP1
Variant:p.P23H
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RP1

NM_006269.2:p.P23H

Associated Papers

Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.

Ali MU et al.

3 Biotech, 2017

A novel rhodopsin point mutation, proline-170-histidine, associated with sectoral retinitis pigmentosa.

Shah SP et al.

Ophthalmic Genetics, 2014

P23H opsin knock-in mice reveal a novel step in retinal rod disc morphogenesis.

Sakami S et al.

Human Molecular Genetics, 2014

[Analysis of clinical phenotype and mode of inheritance in retinitis pigmentosa patients with consanguineous marriage].

Rong WN et al.

[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2012

Variants of RP1 gene in Chinese patients with autosomal dominant retinitis pigmentosa.

Sheng X et al.

Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2008

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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."