Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.T200M
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GALNS

NM_000512.5:p.T200M

Associated Papers

Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).

Tomatsu S et al.

Human Mutation, 2005

Mucopolysaccharidosis IVA: identification of mutations and methylation study in GALNS gene.

Tomatsu S et al.

Journal of Medical Genetics, 2004

Determinant factors of spectrum of missense variants in mucopolysaccharidosis IVA gene.

Tomatsu S et al.

Molecular Genetics and Metabolism, 0

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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."