Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.G614V
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USH2A

NM_206933.4:p.G614V

Associated Papers

Clinical and molecular findings in children with retinitis pigmentosa.

Li C et al.

Ophthalmic Genetics, 2024

Genotype-Phenotype of CRB1-Associated Early-Onset Retinal Dystrophy: Novel Insights on Retinal Architecture and Therapeutic Window for Clinical Trials.

Jin Y et al.

Investigative Ophthalmology & Visual Science, 2024

A Comprehensive Evaluation of the Performance of Prediction Algorithms on Clinically Relevant Missense Variants.

Qorri E et al.

International Journal of Molecular Sciences, 2022

35887294 (PubMed )
Supplement: ijms-23-07946-s001.zip › Supplementary_Table_S7.xlsx › Circularity_Dataset__CircD_
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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."