Varaico: Literature-Extracted Genetic Variants

Gene:HGSNAT
Variant:p.W403*
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HGSNAT

NM_152419.3:p.W403*

Associated Papers

Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients.

Deden AC et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018

Genetics and genomic medicine in Tunisia.

Elloumi-Zghal H et al.

Molecular Genetics & Genomic Medicine, 2018

Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases.

Gómez-Grau M et al.

Plos One, 2015

Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.

Romdhane L et al.

Orphanet Journal of Rare Diseases, 2012

Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients.

Ouesleti S et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011

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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."