Varaico: Literature-Extracted Genetic Variants

Gene:NEU1
Variant:p.L223_G227delFs
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NEU1

NM_000434.4:p.L223_G227delFs

Associated Papers

Clinical and Structural Characteristics of NEU1 Variants Causing Sialidosis Type 1.

Li Y et al.

Journal of Movement Disorders, 2024

38600684 (PubMed )
Supplement: jmd-23145-Supplementary-Table-1.pdf

Generation of novel induced pluripotent stem cell (iPSC) line from a 16-year-old sialidosis patient with NEU-1 gene mutation.

Liu SP et al.

Stem Cell Research, 2018

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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."