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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMPD3

Variant:p.G248S

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SMPD3

NM_018667.4:p.G248S

hg38:chr16:68371440 C>T

Associated Papers

Mutations in the neutral sphingomyelinase gene SMPD3 implicate the ceramide pathway in human leukemias.

Kim WJ et al.

Blood, 2008

18299447 (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."