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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ARSK

Variant:p.E143*

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ARSK

NM_198150.3:p.E143*

hg38:chr5:95582926 G>T

Associated Papers

ARSK-Related Mucopolysaccharidosis Type 10.

Al Fahdi I et al.

American Journal of Medical Genetics. Part A, 2025

40742107 (PubMed )

Further characterization of ARSK-related mucopolysaccharidosis type 10.

Uludağ Alkaya D et al.

American Journal of Medical Genetics. Part A, 2024

38634625 (PubMed )

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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."