Publications:

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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: ASL: 637C>T; Arg213Ter; rs761651320

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population.

Scientific Reports

Zhang, Ruixue R; Qiang, Rong R; Song, Chengrong C; Ma, Xiaoping X; Zhang, Yan Y; Li, Fengxia F; Wang, Rui R; Yu, Wenwen W; Feng, Mei M; Yang, Lihui L; Wang, Xiaobin X; Cai, Na N

Publication Date: 2021-01-29

Variant appearance in text: ASL: 637C>T; Arg213Ter

PubMed Link: 33514801

Variant Present in the following documents:

• Main text
• 41598_2021_Article_81897.pdf

View BVdb publication page

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Identification of mutations in Malaysian patients with argininosuccinate lyase (ASL) deficiency.

Molecular Genetics And Metabolism Reports

Ali, Ernie Zuraida EZ; Yakob, Yusnita Y; Ngu, Lock Hock LH

Publication Date: 2019-12

Variant appearance in text: ASL: Arg213*

PubMed Link: 31709144

Variant Present in the following documents:

• Main text
• main.pdf

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Whole-Exome Sequencing Identified a Novel Compound Heterozygous Genotype in ASL in a Chinese Han Patient with Argininosuccinate Lyase Deficiency.

Biomed Research International

Zhao, Mei M; Hou, Lingling L; Teng, Huajing H; Li, Jinchen J; Wang, Jiesi J; Zhang, Kunlin K; Yang, Lin L

Publication Date: 2019

Variant appearance in text: ASL: 637C>T; Arg213Ter

PubMed Link: 31183366

Variant Present in the following documents:

• Main text
• BMRI2019-3530198.pdf

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Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.

Orphanet Journal Of Rare Diseases

Bijarnia-Mahay, Sunita S; Häberle, Johannes J; Jalan, Anil B AB; Puri, Ratna Dua RD; Kohli, Sudha S; Kudalkar, Ketki K; Rüfenacht, Véronique V; Gupta, Deepti D; Maurya, Deepshikha D; Verma, Jyotsna J; Shigematsu, Yosuke Y; Yamaguchi, Seiji S; Saxena, Renu R; Verma, Ishwar C IC

Publication Date: 2018-10-01

Variant appearance in text: ASL: 637C>T; Arg213Ter

PubMed Link: 30285816

Variant Present in the following documents:

• Main text
• 13023_2018_Article_908.pdf
• 13023_2018_908_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: ASL: 637C>T; R213*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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