Varaico: Literature-Extracted Genetic Variants

Gene:SGSH
Variant:p.F225L
Back to variants list

SGSH

NM_000199.5:p.F225L

Associated Papers

Chemically modified recombinant human sulfamidase (SOBI003) in mucopolysaccharidosis IIIA patients: Results from an open, non-controlled, multicenter study.

Harmatz P et al.

Molecular Genetics and Metabolism, 2022

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

Ugrinov KG et al.

Plos One, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."