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Paper Details

A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures.
Neurogenetics
6
2020
ARV1, ARV1 transcript, C, Deficiency of the endoplasmic reticulum transmembrane protein ARV1, GPI-anchored protein, Gas1, Gly189Arg, PIGA, PIGM, PIGQ, epileptic encephalopathy, fibroblasts, glycosylphosphatidylinositol, human, human cells, humans, infantile encephalopathy, intellectual disability, mice, p.Gly189Arg, patients, plasma, seizures, sphingolipid, sphingolipids, yeast, yeast arv1, yeast arv1 null mutants
Author NameAffiliation
Tom WalshUniversity of Washington
Tom WalshUniversity of Washington
Mary-Claire KingUniversity of Washington
Mary-Claire KingUniversity of Washington
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Release 1.2