Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.C780fs
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USH2A

NM_206933.4:p.C780fs

Associated Papers

Clinical and preclinical therapeutic outcome metrics for USH2A-related disease.

Toms M et al.

Human Molecular Genetics, 2020

Application of CRISPR Tools for Variant Interpretation and Disease Modeling in Inherited Retinal Dystrophies.

Fuster-García C et al.

Genes, 2020

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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."