Varaico: Literature-Extracted Genetic Variants

Gene:NEU1
Variant:p.G219D
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NEU1

NM_000434.4:p.G219D

Associated Papers

Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature.

Cao LX et al.

World Journal of Clinical Cases, 2021

Molecular pathology of NEU1 gene in sialidosis.

Seyrantepe V et al.

Human Mutation, 2003

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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."