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: M167V

PubMed Link: 27570737

Variant Present in the following documents:

• main.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: NAGS: M167V

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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Urea cycle disorders in Spain: an observational, cross-sectional and multicentric study of 104 cases.

Orphanet Journal Of Rare Diseases

Martín-Hernández, Elena E; Aldámiz-Echevarría, Luis L; Castejón-Ponce, Esperanza E; Pedrón-Giner, Consuelo C; Couce, María Luz ML; Serrano-Nieto, Juliana J; Pintos-Morell, Guillem G; Bélanger-Quintana, Amaya A; Martínez-Pardo, Mercedes M; García-Silva, María Teresa MT; Quijada-Fraile, Pilar P; Vitoria-Miñana, Isidro I; Dalmau, Jaime J; Lama-More, Rosa A RA; Bueno-Delgado, María Amor MA; Del Toro-Riera, Mirella M; García-Jiménez, Inmaculada I; Sierra-Córcoles, Concepción C; Ruiz-Pons, Mónica M; Peña-Quintana, Luis J LJ; Vives-Piñera, Inmaculada I; Moráis, Ana A; Balmaseda-Serrano, Elena E; Meavilla, Silvia S; Sanjurjo-Crespo, Pablo P; Pérez-Cerdá, Celia C

Publication Date: 2014-11-30

Variant appearance in text: NAGS: 499A>G; Met167Val

PubMed Link: 25433810

Variant Present in the following documents:

• Main text
• 13023_2014_Article_187.pdf

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N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment.

The Application Of Clinical Genetics

Ah Mew, Nicholas N; Caldovic, Ljubica L

Publication Date: 2011

Variant appearance in text: NAGS: M167V

PubMed Link: 23776373

Variant Present in the following documents:

• tacg-4-127.pdf

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