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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMPD1

Variant:p.V499_Y500delins

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SMPD1

NM_000543.5:p.V499_Y500delins

hg38:chr11:6394208 GT>AC

Associated Papers

Enzyme replacement therapy for children with acid sphingomyelinase deficiency in the real world: A single center experience in Taiwan.

Pan YW et al.

Molecular Genetics and Metabolism Reports, 2023

36873248 (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."