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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SPTLC2

Variant:p.V494A

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SPTLC2

NM_004863.4:p.V494A

hg38:chr14:77518126 A>G

Associated Papers

Development of a Multiplexed Sphingolipids Method for Diagnosis of Inborn Errors of Ceramide Metabolism.

Byeon SK et al.

Clinical Chemistry, 2024

39206579 (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."