Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.P288L
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SGSH

NM_000199.5:p.P288L

Associated Papers

Targeted Next Generation Sequencing in Patients with Inborn Errors of Metabolism.

Yubero D et al.

Plos One, 2016

27243974 (PubMed )
Supplement: pone.0156359.s002.xlsx › general_

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

Ugrinov KG et al.

Plos One, 2015

Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.

Sidhu NS et al.

Acta Crystallographica. Section D, Biological Crystallography, 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."