Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.T2812fs
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USH2A

NM_206933.4:p.T2812fs

Associated Papers

Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.

García-Bohórquez B et al.

Molecular Therapy. Nucleic Acids, 2024

Unravelling the pathogenic role and genotype-phenotype correlation of the USH2A p.(Cys759Phe) variant among Spanish families.

Pérez-Carro R et al.

Plos One, 2018

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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."