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Year | Number of Results |
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2001 | 1 |
2018 | 1 |
2021 | 1 |
2024 | 0 |
PubMed (cited) for id: 610271
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Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy.
Epilepsia. 2021 Feb;62(2):e35-e41. doi: 10.1111/epi.16801. Epub 2021 Jan 7.
Epilepsia. 2021.
PMID: 33410539
Free PMC article.
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, Jones MC, Masser-Frye D, Scheuerle AE, Perry DL, Taft RJ, Le Deist F, Thompson M, Kinoshita T, Campeau PM.
Nguyen TTM, et al.
Am J Hum Genet. 2018 Oct 4;103(4):602-611. doi: 10.1016/j.ajhg.2018.08.014. Epub 2018 Sep 27.
Am J Hum Genet. 2018.
PMID: 30269814
Free PMC article.
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PIG-S and PIG-T, essential for GPI anchor attachment to proteins, form a complex with GAA1 and GPI8.
Ohishi K, Inoue N, Kinoshita T.
Ohishi K, et al.
EMBO J. 2001 Aug 1;20(15):4088-98. doi: 10.1093/emboj/20.15.4088.
EMBO J. 2001.
PMID: 11483512
Free PMC article.
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