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Identification of a novel splicing variant in the phosphatidylinositol glycan class S (PIGS) gene that is associated with early onset epilepsy, severe developmental delay, and ventricular septal defect: a case report
BACKGROUND: Glycosylphosphatidylinositols (GPI) are glycolipids that act as membrane anchors of many cell surface proteins. The phosphatidylinositol glycan class S (PIGS) gene encodes an essential component of the multi-subunit, membrane-bound, GPI transamidase that comprises 4 other proteins includ...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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AME Publishing Company
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10080484/ https://www.ncbi.nlm.nih.gov/pubmed/37035392 http://dx.doi.org/10.21037/tp-22-317 |