Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.M376R
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SGSH

NM_000199.5:p.M376R

Associated Papers

The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants.

Noureldeen MM et al.

Italian Journal of Pediatrics, 2025

A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA.

Shapiro EG et al.

The Journal of Pediatrics, 2016

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

Ugrinov KG et al.

Plos One, 2015

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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."