Publications:

N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra.

Molecular Genetics And Metabolism Reports

Al Kaabi, Eiman H EH; El-Hattab, Ayman W AW

Publication Date: 2016-09

Variant appearance in text: NAGS: K201N

PubMed Link: 27570737

Variant Present in the following documents:

• main.pdf

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: NAGS: K201N

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency.

Jimd Reports

van de Logt, Anne-Els AE; Kluijtmans, Leo A J LA; Huigen, Marleen C D G MC; Janssen, Mirian C H MC

Publication Date: 2017

Variant appearance in text: NAGS: 603G>C; Lys201Asn

PubMed Link: 27147233

Variant Present in the following documents:

• Main text

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