Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.V226A
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SGSH

NM_000199.5:p.V226A

Associated Papers

A multiparametric computational algorithm for comprehensive assessment of genetic mutations in mucopolysaccharidosis type IIIA (Sanfilippo syndrome).

Ugrinov KG et al.

Plos One, 2015

Identification of molecular defects in Italian Sanfilippo A patients including 13 novel mutations.

Di Natale P 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."