Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.I2759_H2760insT
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USH2A

NM_206933.4:p.I2759_H2760insT

Associated Papers

Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.

Soens ZT et al.

Human Mutation, 2017

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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."