Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.G275R
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SGSH

NM_000199.5:p.G275R

Associated Papers

Natural History and Molecular Characteristics of Korean Patients with Mucopolysaccharidosis Type III.

Kim MS et al.

Journal of Personalized Medicine, 2022

A multiparametric computational algorithm for comprehensive assessment of genetic mutations in mucopolysaccharidosis type IIIA (Sanfilippo syndrome).

Ugrinov KG et al.

Plos One, 2015

Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece.

Héron B et al.

American Journal of Medical Genetics. Part A, 2011

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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."