Varaico: Literature-Extracted Genetic Variants

Gene:GUSB
Variant:p.T177I
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GUSB

NM_000181.4:p.T177I

Associated Papers

Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort.

Gónzalez-Meneses A et al.

Orphanet Journal of Rare Diseases, 2021

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

Fernández-Marmiesse A et al.

Orphanet Journal of Rare Diseases, 2014

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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."