Varaico: Literature-Extracted Genetic Variants

Gene:USH1G
Variant:p.W267*
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USH1G

NM_173477.5:p.W267*

Associated Papers

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A.

Mansard L et al.

International Journal of Molecular Sciences, 2021

An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.

Bonnet C et al.

European Journal of Human Genetics : Ejhg, 2016

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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."