Varaico: Literature-Extracted Genetic Variants

Gene:NEU1
Variant:p.C230*
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NEU1

NM_000434.4:p.C230*

Associated Papers

Sialidosis Type I without a Cherry Red Spot- Is There a Genetic Basis?

Neeraja K et al.

Journal of Movement Disorders, 2021

Clinical and genetic characteristics of type I sialidosis patients in mainland China.

Lv RJ et al.

Annals of Clinical and Translational Neurology, 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."