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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CERT1

Variant:p.L30F

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CERT1

NM_001379029.1:p.L30F

hg38:chr5:75511120 G>A

Associated Papers

CERT1 mutations perturb human development by disrupting sphingolipid homeostasis.

Gehin C et al.

The Journal of Clinical Investigation, 2023

36976648 (PubMed )

Supplement: jci-133-165019-s016.xlsx › Table_S4

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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."