Varaico: Literature-Extracted Genetic Variants

Gene:NEU1
Variant:p.I291T
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NEU1

NM_000434.4:p.I291T

Associated Papers

Long-range PCR amplification-based targeted enrichment & next generation sequencing: A cost-effective testing strategy for lysosomal storage disorders.

Vanaja MC et al.

The Indian Journal of Medical Research, 2023

Ataxia and Myoclonus with a Cherry-Red Spot Unfurling an Unusual Phenotypic Presentation of Sialidosis Type 1.

Mukherjee D et al.

Journal of Movement Disorders, 2021

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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."