Publications:

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Therapeutic and Toxic Effects of Valproic Acid Metabolites.

Metabolites

Shnayder, Natalia A NA; Grechkina, Violetta V VV; Khasanova, Aiperi K AK; Bochanova, Elena N EN; Dontceva, Evgenia A EA; Petrova, Marina M MM; Asadullin, Azat R AR; Shipulin, German A GA; Altynbekov, Kuanysh S KS; Al-Zamil, Mustafa M; Nasyrova, Regina F RF

Publication Date: 2023-01-16

Variant appearance in text: rs111033541

PubMed Link: 36677060

Variant Present in the following documents:

• Main text
• metabolites-13-00134.pdf

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Translational Control of Secretory Proteins in Health and Disease.

International Journal Of Molecular Sciences

Karamyshev, Andrey L AL; Tikhonova, Elena B EB; Karamysheva, Zemfira N ZN

Publication Date: 2020-04-06

Variant appearance in text: UGT1A1: L15R

PubMed Link: 32268488

Variant Present in the following documents:

• Main text

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Silencing of Aberrant Secretory Protein Expression by Disease-Associated Mutations.

Journal Of Molecular Biology

Tikhonova, Elena B EB; Karamysheva, Zemfira N ZN; von Heijne, Gunnar G; Karamyshev, Andrey L AL

Publication Date: 2019-06-28

Variant appearance in text: UGT1A1: L15R

PubMed Link: 31100385

Variant Present in the following documents:

• Main text

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Pathogenic Signal Sequence Mutations in Progranulin Disrupt SRP Interactions Required for mRNA Stability.

Cell Reports

Pinarbasi, Emile S ES; Karamyshev, Andrey L AL; Tikhonova, Elena B EB; Wu, I-Hui IH; Hudson, Henry H; Thomas, Philip J PJ

Publication Date: 2018-06-05

Variant appearance in text: UGT1A1: L15R

PubMed Link: 29874572

Variant Present in the following documents:

• Main text
• nihms-976400.pdf

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Germline genetic variants with implications for disease risk and therapeutic outcomes.

Physiological Genomics

Pasternak, Amy L AL; Ward, Kristen M KM; Luzum, Jasmine A JA; Ellingrod, Vicki L VL; Hertz, Daniel L DL

Publication Date: 2017-10-01

Variant appearance in text: UGT1A1: L15R

PubMed Link: 28887371

Variant Present in the following documents:

• Main text

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Characterization of ADME gene variation in 21 populations by exome sequencing.

Pharmacogenetics And Genomics

Hovelson, Daniel H DH; Xue, Zhengyu Z; Zawistowski, Matthew M; Ehm, Margaret G MG; Harris, Elizabeth C EC; Stocker, Sophie L SL; Gross, Annette S AS; Jang, In-Jin IJ; Ieiri, Ichiro I; Lee, Jong-Eun JE; Cardon, Lon R LR; Chissoe, Stephanie L SL; Abecasis, Gonçalo G; Nelson, Matthew R MR

Publication Date: 2017-03

Variant appearance in text: rs111033541

PubMed Link: 27984508

Variant Present in the following documents:

• fpc-27-089-s005.xlsx, sheet 2

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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: UGT1A1: L15R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Regression Modeling and Meta-Analysis of Diagnostic Accuracy of SNP-Based Pathogenicity Detection Tools for UGT1A1 Gene Mutation.

Genetics Research International

Rahim, Fakher F; Galehdari, Hamid H; Mohammadi-Asl, Javad J; Saki, Najmaldin N

Publication Date: 2013

Variant appearance in text: UGT1A1: L15R; rs111033541

PubMed Link: 23997956

Variant Present in the following documents:

• Main text
• GRI2013-546909.pdf

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Meta-analysis diagnostic accuracy of SNP-based pathogenicity detection tools: a case of UTG1A1 gene mutations.

International Journal Of Molecular Epidemiology And Genetics

Galehdari, Hamid H; Saki, Najmaldin N; Mohammadi-Asl, Javad J; Rahim, Fakher F

Publication Date: 2013

Variant appearance in text: UGT1A1: L15R; rs111033541

PubMed Link: 23875061

Variant Present in the following documents:

• Main text

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Recommendations for pregnancies in patients with crigler-najjar syndrome.

Jimd Reports

Wilson, J H Paul JH; Sinaasappel, Maarten M; Lotgering, Fred K FK; Langendonk, Janneke G JG

Publication Date: 2013

Variant appearance in text: UGT1A1: L15R

PubMed Link: 23430496

Variant Present in the following documents:

• Main text

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Prediction of deleterious non-synonymous single-nucleotide polymorphisms of human uridine diphosphate glucuronosyltransferase genes.

The Aaps Journal

Di, Yuan Ming YM; Chan, Eli E; Wei, Ming Qian MQ; Liu, Jun-Ping JP; Zhou, Shu-Feng SF

Publication Date: 2009-09

Variant appearance in text: UGT1A1: L15R

PubMed Link: 19572200

Variant Present in the following documents:

• Main text

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