Varaico: Literature-Extracted Genetic Variants

Gene:NEU1
Variant:p.D177V
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NEU1

NM_000434.4:p.D177V

Associated Papers

Two cases of type I sialidosis and a literature review.

Ding Y et al.

Orphanet Journal of Rare Diseases, 2024

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

Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview.

Caciotti A et al.

Molecular Genetics and Metabolism, 2020

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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."