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2018 | 1 |
2019 | 1 |
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The ATP6V1B2 DDOD/DOORS-Associated p.Arg506* Variant Causes Hyperactivity and Seizures in Mice.
Genes (Basel). 2023 Jul 27;14(8):1538. doi: 10.3390/genes14081538.
Genes (Basel). 2023.
PMID: 37628590
Free PMC article.
Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants.
Baratang NV, Jimenez Cruz DA, Ajeawung NF, Nguyen TTM, Pacheco-Cuéllar G, Campeau PM.
Baratang NV, et al.
Mol Genet Genomic Med. 2019 Jul;7(7):e00743. doi: 10.1002/mgg3.743. Epub 2019 May 24.
Mol Genet Genomic Med. 2019.
PMID: 31127708
Free PMC article.
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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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