Varaico: Literature-Extracted Genetic Variants

Gene:DEGS1
Variant:p.Y284*
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DEGS1

NM_003676.4:p.Y284*

Associated Papers

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

Byeon SK et al.

Clinical Chemistry, 2024

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.

Pant DC et al.

The Journal of Clinical Investigation, 2019

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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."