Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.Y224*
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SGSH

NM_000199.5:p.Y224*

Associated Papers

Clinical, biochemical, and molecular characteristics of Sanfilippo a syndrome (MPS IIIA) in a cohort of Egyptian patients.

Fateen E et al.

Orphanet Journal of Rare Diseases, 2025

Impaired neural differentiation of MPS IIIA patient induced pluripotent stem cell-derived neural progenitor cells.

Lehmann RJ et al.

Molecular Genetics and Metabolism Reports, 2021

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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."