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Paper Details

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.
Am J Hum Genet
62
2016
2, Arg669Cys, B lymphoblasts, GPI, GPI deficiencies, GPI-APs, Hypotonia, IGDs, Intellectual Disability, PIGG, PIGG Cause, PIGG deficiency, Seizures, c, c., c.2261+, coarse facial features, epilepsy, ethanolamine phosphate, hypotonia, intellectual disability, mannose, multiple organ anomalies, seizures
Author NameAffiliation
Maha S ZakiNational Research Centre
Federico SantoniUniversity of Geneva, University Hospitals of Geneva
Mahmoud Y IssaNational Research Centre
Clare V LoganUniversity of Leeds
David A D ParryUniversity of Leeds
Colin A JohnsonUniversity of Leeds
Stylianos E AntonarakisUniversity of Geneva, University Hospitals of Geneva, Switzerland Institute of Genetics and Genomics of Geneva
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