Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.N274D
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SGSH

NM_000199.5:p.N274D

Associated Papers

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

Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.

Knottnerus SJG et al.

Annals of Neurology, 2017

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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."