Varaico: Literature-Extracted Genetic Variants

Gene:GALNS
Variant:p.G365V
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GALNS

NM_000512.5:p.G365V

Associated Papers

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

34387910 (PubMed )
Supplement: HUMU-42-1384-s001.xlsx › TabS4_GenotypesLiterature

[Analysis of clinical features and GALNS gene mutation in a patient with mucopolysaccharidosis type IV A].

Chen Q et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2017

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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."