Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.Q365insFs
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SGSH

NM_000199.5:p.Q365insFs

Associated Papers

Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects.

Esposito S et al.

Biochimica Et Biophysica Acta, 2000

Mutation 1091delC is highly prevalent in Spanish Sanfilippo syndrome type A patients.

Montfort M et al.

Human Mutation, 1998

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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."