Varaico: Literature-Extracted Genetic Variants

Gene:HGSNAT
Variant:p.Y70*
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HGSNAT

NM_152419.3:p.Y70*

Associated Papers

Generation of two compound heterozygous HGSNAT-mutated lines from healthy induced pluripotent stem cells using CRISPR/Cas9 to model Sanfilippo C syndrome.

Benetó N et al.

Stem Cell Research, 2019

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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."