Publications:

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Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases

Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z

Publication Date: 2022-02-21

Variant appearance in text: NAGS: 1450T>C

PubMed Link: 35193651

Variant Present in the following documents:

• 13023_2022_2231_MOESM2_ESM.xlsx, sheet 1

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: NAGS: 1450T>C; Trp484Arg

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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Efficacy of N-carbamoyl-L-glutamic acid for the treatment of inherited metabolic disorders.

Expert Review Of Endocrinology & Metabolism

Chapel-Crespo, Cristel C CC; Diaz, George A GA; Oishi, Kimihiko K

Publication Date: 2016

Variant appearance in text: NAGS: Trp484Arg

PubMed Link: 30034506

Variant Present in the following documents:

• Main text

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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: W484R

PubMed Link: 27570737

Variant Present in the following documents:

• Main text
• main.pdf

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Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach.

Scientifica

Chaturvedi, Swati S; Singh, Ashok K AK; Keshari, Amit K AK; Maity, Siddhartha S; Sarkar, Srimanta S; Saha, Sudipta S

Publication Date: 2016

Variant appearance in text: NAGS: 1450T>C; W484R

PubMed Link: 27051561

Variant Present in the following documents:

• Main text
• SCIENTIFICA2016-9828672.pdf

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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: W484R

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: W484R

PubMed Link: 23776373

Variant Present in the following documents:

• Main text
• tacg-4-127.pdf

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A novel N-acetylglutamate synthase architecture revealed by the crystal structure of the bifunctional enzyme from Maricaulis maris.

Plos One

Shi, Dashuang D; Li, Yongdong Y; Cabrera-Luque, Juan J; Jin, Zhongmin Z; Yu, Xiaolin X; Zhao, Gengxiang G; Haskins, Nantaporn N; Allewell, Norma M NM; Tuchman, Mendel M

Publication Date: 2011

Variant appearance in text: NAGS: W484R

PubMed Link: 22174908

Variant Present in the following documents:

• Main text
• pone.0028825.pdf

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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research

Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH

Publication Date: 2009-03

Variant appearance in text: NAGS: W484R

PubMed Link: 19139070

Variant Present in the following documents:

• gkn1008_nar-01723-s-2008-File009.xls, sheet 4

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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: Trp484Arg

PubMed Link: 15050968

Variant Present in the following documents:

• Main text

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