Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.G167fs
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ARSB

NM_000046.5:p.G167fs

Associated Papers

Functional Analysis of Complex Structural and Splice-Altering Variants in the ARSB Gene Towards the Personalized Antisense-Based Therapy for Mucopolysaccharidosis Type VI Patients.

Bychkov I et al.

Human Mutation, 2025

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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."