Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.C495R
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SGSH

NM_000199.5:p.C495R

Associated Papers

Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases.

Slaba K et al.

Scientific Reports, 2024

Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells.

Murgasova L et al.

Virchows Archiv : an International Journal of Pathology, 2024

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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."