Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.V2742fs
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USH2A

NM_206933.4:p.V2742fs

Associated Papers

Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A.

Reurink J et al.

International Journal of Molecular Sciences, 2022

arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs.

Van Cauwenbergh C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis.

Chen X et al.

Plos One, 2014

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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."