Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.W312C
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ARSB

NM_000046.5:p.W312C

Associated Papers

Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders.

Urizar E et al.

Genes, 2025

Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment.

Harmatz P et al.

Frontiers in Bioscience (landmark Edition), 2017

Mutational analysis of 105 mucopolysaccharidosis type VI patients.

Karageorgos L et al.

Human Mutation, 2007

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."