Publications:

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: NAGS: A279P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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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: A279P

PubMed Link: 23776373

Variant Present in the following documents:

• Main text
• tacg-4-127.pdf

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Mammalian N-acetylglutamate synthase.

Molecular Genetics And Metabolism

Morizono, Hiroki H; Caldovic, Ljubica L; Shi, Dashuang D; Tuchman, Mendel M

Publication Date: 2004-04

Variant appearance in text: NAGS: Ala279Pro

PubMed Link: 15050968

Variant Present in the following documents:

• Main text

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