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: 1036dupC; H346Pfs

PubMed Link: 27570737

Variant Present in the following documents:

• Main text
• main.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: 1036insC

PubMed Link: 23776373

Variant Present in the following documents:

• Main text

View BVdb publication page