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注意:仅列出部分参考文献,下载原文获取全部文献信息。Deciphering the premature mortality in PIGA-CDG - An untold story
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Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders
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EUROPEAN JOURNAL OF HUMAN GENETICS (2017)
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Neurophysiology of myoclonus and progressive myoclonus epilepsies
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
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GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene
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Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors
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ILAE Official Report: A practical clinical definition of epilepsy
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Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3
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Two Subunits of glycosylphosphatidylinositol transamidase, GPI8 and PIG-T, form a functionally important intermolecular disulfide bridge
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EMBO JOURNAL (2001)