Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.Q365P
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SGSH

NM_000199.5:p.Q365P

Associated Papers

Natural history, clinical symptoms, and cognitive development of Japanese patients with mucopolysaccharidosis III.

Seo JH et al.

Molecular Genetics and Metabolism Reports, 2025

VarMeter: a prediction method for the impact of glycogene variants.

Ohno S et al.

Journal of Human Genetics, 2025

VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.

Ohno S et al.

Computational and Structural Biotechnology Journal, 2025

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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."