Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.H337delFs
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GALNS

NM_000512.5:p.H337delFs

Associated Papers

Updated Confirmatory Diagnosis for Mucopolysaccharidoses in Taiwanese Infants and the Application of Gene Variants.

Chuang CK et al.

International Journal of Molecular Sciences, 2022

Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.

Zanetti A et al.

Human Mutation, 2021

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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."