Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.A361T
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ARSB

NM_000046.5:p.A361T

Associated Papers

Nationwide Newborn Screening Program for Mucopolysaccharidoses in Taiwan and an Update of the "Gold Standard" Criteria Required to Make a Confirmatory Diagnosis.

Chuang CK et al.

Diagnostics (basel, Switzerland), 2021

Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia.

Chistiakov DA et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2014

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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."