Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.N76H
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GALNS

NM_000512.5:p.N76H

Associated Papers

Implementation of newborn screening for mucopolysaccharidosis type IVA and long-term monitoring in Taiwan.

Lin HY et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

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

Chuang CK et al.

International Journal of Molecular Sciences, 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."