Associated Papers
PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia.
Zanni G et al.
Cerebellum (london, England), 2022
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.
Johnstone DL et al.
Journal of Inherited Metabolic Disease, 2020
PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype.
Starr LJ et al.
American Journal of Medical Genetics. Part A, 2019
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.
Taylor JC et al.
Nature Genetics, 2015
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
Martin HC et al.
Human Molecular Genetics, 2014
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