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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DEGS1

Variant:p.Y201insFs

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DEGS1

NM_003676.4:p.Y201insFs

hg38:chr1:224190092 A>AT

Associated Papers

Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity.

Planas-Serra L et al.

The Journal of Clinical Investigation, 2023

36951944 (PubMed )

Supplement: jci-133-162957-s012.pdf

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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."