Varaico: Literature-Extracted Genetic Variants

Gene:USP14
Variant:p.L70insFs
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USP14

NM_005151.4:p.L70insFs

Associated Papers

Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome).

Li P et al.

Journal of Medical Genetics, 1999

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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."