Varaico: Literature-Extracted Genetic Variants

Gene:ARSB
Variant:p.D195E
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ARSB

NM_000046.5:p.D195E

Associated Papers

The clinical and genotypic-phenotypic findings of mucopolysaccharidosis VI patients: an Iraqi single-study descriptive study.

Baheer Abdul Wahhab S et al.

Annals of Medicine and Surgery (2012), 2023

Clinical, Endocrine and Genetic spectrums of Mucopolysaccharidoses type VI in Duhok city, Kurdistan Region, Iraq.

Haleem AA

Cellular and Molecular Biology (noisy-le-grand, France), 2022

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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."