Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.R382ins2
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SGSH

NM_000199.5:p.R382ins2

Associated Papers

An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA.

Wijburg FA et al.

Molecular Genetics and Metabolism, 2022

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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."