Varaico: Literature-Extracted Genetic Variants

Gene:USH1C
Variant:p.E8del1
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USH1C

NM_153676.4:p.E8del1

Associated Papers

Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.

Roux AF et al.

Journal of Medical Genetics, 2006

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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."