Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.H147P
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ARSB

NM_000046.5:p.H147P

Associated Papers

A perspective on research, diagnosis, and management of lysosomal storage disorders in Colombia.

Puentes-Tellez MA et al.

Heliyon, 2020

Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.

Tomanin R et al.

Human Mutation, 2018

Molecular findings of Colombian patients with type VI mucopolysaccharidosis (Maroteaux-Lamy syndrome).

Giraldo GA et al.

Meta Gene, 2016

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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."