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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HGSNAT

Variant:p.R128del1

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HGSNAT

NM_152419.3:p.R128del1

hg38:chr8:43158932 CAGA>C

Associated Papers

Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations.

Matos L et al.

Orphanet Journal of Rare Diseases, 2014

25491247 (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."