Publications:

The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: NAGS: 1292C>T; Thr431Ile; rs761558985

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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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: T431I

PubMed Link: 27570737

Variant Present in the following documents:

• 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: T431I

PubMed Link: 23776373

Variant Present in the following documents:

• Main text

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