Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.R74R
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SGSH

NM_000199.5:p.R74R

Associated Papers

Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.

Valstar MJ et al.

Annals of Neurology, 2010

Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications.

Yogalingam G et al.

Human Mutation, 2001

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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."