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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DEGS1

Variant:p.H131_L135del0

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DEGS1

NM_003676.4:p.H131_L135del0

hg38:chr1:224189884 TCATCATCGGTAC>T

Associated Papers

Sulfatide levels correlate with severity of neuropathy in metachromatic leukodystrophy.

Dali CÍ et al.

Annals of Clinical and Translational Neurology, 2015

26000324 (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."