GPI transamidase component PIG-S [Homo sapiens]

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Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy. [Epilepsia. 2021]
Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy.
Efthymiou S, Dutra-Clarke M, Maroofian R, Kaiyrzhanov R, Scala M, Reza Alvi J, Sultan T, Christoforou M, Tuyet Mai Nguyen T, Mankad K, et al. Epilepsia. 2021 Feb; 62(2):e35-e41. Epub 2021 Jan 7.
Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy. [Am J Hum Genet. 2018]
Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.
Nguyen TTM, Murakami Y, Wigby KM, Baratang NV, Rousseau J, St-Denis A, Rosenfeld JA, Laniewski SC, Jones J, Iglesias AD, et al. Am J Hum Genet. 2018 Oct 4; 103(4):602-611. Epub 2018 Sep 27.
Endoplasmic reticulum localization of Gaa1 and PIG-T, subunits of the glycosylphosphatidylinositol transamidase complex. [J Biol Chem. 2005]
Endoplasmic reticulum localization of Gaa1 and PIG-T, subunits of the glycosylphosphatidylinositol transamidase complex.
Vainauskas S, Menon AK. J Biol Chem. 2005 Apr 22; 280(16):16402-9. Epub 2005 Feb 15.

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NP_149975 [Domain Mapping of Disease Mut...]
NP_149975
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
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Transcript/Protein Information
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reagents [ExactAntigen/Labome]
reagents
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