Varaico: Literature-Extracted Genetic Variants

Gene:SULF1
Variant:p.I321T
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SULF1

NM_001128205.2:p.I321T

Associated Papers

Clinical, Endocrine and Genetic spectrums of Mucopolysaccharidoses type VI in Duhok city, Kurdistan Region, Iraq.

Haleem AA

Cellular and Molecular Biology (noisy-le-grand, France), 2022

Clinical and event-based outcomes of patients with mucopolysaccharidosis VI receiving enzyme replacement therapy in Turkey: a case series.

İnci A et al.

Orphanet Journal of Rare Diseases, 2021

Prevalence of anti-adeno-associated virus serotype 8 neutralizing antibodies and arylsulfatase B cross-reactive immunologic material in mucopolysaccharidosis VI patient candidates for a gene therapy trial.

Ferla R et al.

Human Gene Therapy, 2015

Clinical manifestations of 17 patients affected with mucopolysaccharidosis type VI and eight novel ARSB mutations.

Kantaputra PN et al.

American Journal of Medical Genetics. Part A, 2014

Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene.

Zanetti A et al.

Jimd Reports, 2014

Mutational analysis of mucopolysaccharidosis type VI patients undergoing a trial of enzyme replacement therapy.

Karageorgos L et al.

Human Mutation, 2004

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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."