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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HGSNAT

Variant:p.A360delFs

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HGSNAT

NM_152419.3:p.A360delFs

hg38:chr8:43182210 GC>G

Associated Papers

Sanfilippo syndrome: a mini-review.

Valstar MJ et al.

Journal of Inherited Metabolic Disease, 2008

18392742 (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."