Varaico: Literature-Extracted Genetic Variants

Gene:USH2A
Variant:p.C638delFs
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USH2A

NM_206933.4:p.C638delFs

Associated Papers

Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.

Jiang L et al.

Orphanet Journal of Rare Diseases, 2015

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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."