Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.G224E
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RHO

NM_000539.3:p.G224E

Associated Papers

RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.

Trastulli G et al.

Genes, 2024

39336749 (PubMed )
Supplement: genes-15-01158-s001.zip › genes-3162794-supplementary.xlsx › Table_S1

CRISPR DNA Base Editing Strategies for Treating Retinitis Pigmentosa Caused by Mutations in Rhodopsin.

Kaukonen M et al.

Genes, 2022

35893064 (PubMed )
Supplement: genes-13-01327-s001.zip › Table_S1_LOVD.xlsx › LOVD_2022-04-19

Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes.

Sun W et al.

Investigative Ophthalmology & Visual Science, 2015

Site-specificity of the second-site suppressor mutation of the Asp-285-->Asn mutant of metal-tetracycline/H+ antiporter of Escherichia coli and the effects of amino acid substitutions at the first and second sites.

Someya Y et al.

Biochemistry, 1995

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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."