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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IDS

Variant:p.S426L

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IDS

NM_000202.8:p.S426L

hg38:chrX:149483122 G>A

Associated Papers

Zebra-Sphinx: Modeling Sphingolipidoses in Zebrafish.

Mignani L et al.

International Journal of Molecular Sciences, 2023

36902174 (PubMed )

Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry.

Hong X et al.

Analytical Chemistry, 2020

31922725 (PubMed )

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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."