Varaico: Literature-Extracted Genetic Variants

Gene:ARSK
Variant:p.S356Y
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ARSK

NM_198150.3:p.S356Y

Associated Papers

ARSK-Related Mucopolysaccharidosis Type 10.

Al Fahdi I et al.

American Journal of Medical Genetics. Part A, 2025

Further characterization of ARSK-related mucopolysaccharidosis type 10.

Uludağ Alkaya D et al.

American Journal of Medical Genetics. Part A, 2024

A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis.

Sun M et al.

Genes & Diseases, 2024

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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."