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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GLA

Variant:p.S345L

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GLA

NM_000169.3:p.S345L

hg38:chrX:101398065 G>A

Associated Papers

Molecular pathology of NEU1 gene in sialidosis.

Seyrantepe V et al.

Human Mutation, 2003

14517945 (PubMed )

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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."