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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DEGS1

Variant:p.Y202fs

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DEGS1

NM_003676.4:p.Y202fs

hg38:chr1:224190098 TAC>N

Associated Papers

The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy.

Hülsmeier AJ et al.

Journal of Lipid Research, 2023

37890668 (PubMed )

Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.

Pant DC et al.

The Journal of Clinical Investigation, 2019

30620337 (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."