Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs13830

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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Inosine Triphosphate Pyrophosphatase (ITPase): Functions, Mutations, Polymorphisms and Its Impact on Cancer Therapies.

Cells

Zamzami, Mazin A MA

Publication Date: 2022-01-24

Variant appearance in text: rs13830

PubMed Link: 35159194

Variant Present in the following documents:

• Main text
• cells-11-00384.pdf

View BVdb publication page

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Inosine Triphosphate Pyrophosphatase (ITPase): Functions, Mutations, Polymorphisms and Its Impact on Cancer Therapies.

Cells

Zamzami, Mazin A MA

Publication Date: 2022-01-24

Variant appearance in text: rs13830

PubMed Link: 35159194

Variant Present in the following documents:

• Main text
• cells-11-00384.pdf

View BVdb publication page

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TPMT*3C as a Predictor of 6-Mercaptopurine-Induced Myelotoxicity in Thai Children with Acute Lymphoblastic Leukemia.

Journal Of Personalized Medicine

Jantararoungtong, Thawinee T; Wiwattanakul, Supaporn S; Tiyasirichokchai, Rawiporn R; Prommas, Santirhat S; Sukprasong, Rattanaporn R; Koomdee, Napatrupron N; Jinda, Pimonpan P; Rachanakul, Jiratha J; Nuntharadthanaphong, Nutthan N; Pakakasama, Samart S; Anurathapan, Usanarat U; Hongeng, Suradej S; Sukasem, Chonlaphat C

Publication Date: 2021-08-11

Variant appearance in text: rs13830

PubMed Link: 34442427

Variant Present in the following documents:

• Main text
• jpm-11-00783.pdf

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Effects of various genetic polymorphisms on thiopurine treatment-associated outcomes for Korean patients with Crohn's disease.

British Journal Of Clinical Pharmacology

Choi, Rihwa R; Lee, Mi-Na MN; Kim, Kyunga K; Baek, Sun-Young SY; Kim, Tae Jun TJ; Hong, Sung Noh SN; Kim, Young-Ho YH; Lee, Soo-Youn SY

Publication Date: 2020-11

Variant appearance in text: rs13830

PubMed Link: 32372428

Variant Present in the following documents:

• Main text

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: rs13830

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs13830

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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A disease spectrum for ITPA variation: advances in biochemical and clinical research.

Journal Of Biomedical Science

Burgis, Nicholas E NE

Publication Date: 2016-10-22

Variant appearance in text: rs13830

PubMed Link: 27770805

Variant Present in the following documents:

• Main text
• 12929_2016_Article_291.pdf

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Identification of ITPA on chromosome 20 as a susceptibility gene for young-onset tuberculosis.

Human Genome Variation

Nakauchi, Ayaka A; Wong, Jing Hao JH; Mahasirimongkol, Surakameth S; Yanai, Hideki H; Yuliwulandari, Rika R; Mabuchi, Akihiko A; Liu, Xiaoxi X; Mushiroda, Taisei T; Wattanapokayakit, Sukanya S; Miyagawa, Taku T; Keicho, Naoto N; Tokunaga, Katsushi K

Publication Date: 2016

Variant appearance in text: rs13830

PubMed Link: 27081565

Variant Present in the following documents:

• Main text
• hgv201567.pdf

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: rs13830

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2

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Pharmacogenetic analysis of pediatric patients with acute lymphoblastic leukemia: a possible association between survival rate and ITPA polymorphism.

Plos One

Kim, Hyery H; Kang, Hyoung Jin HJ; Kim, Hyo Jeong HJ; Jang, Mi Kyung MK; Kim, Nam Hee NH; Oh, Yongtaek Y; Han, Byoung-Don BD; Choi, Ji-Yeob JY; Kim, Chul Woo CW; Lee, Ji Won JW; Park, Kyung Duk KD; Shin, Hee Young HY; Ahn, Hyo Seop HS

Publication Date: 2012

Variant appearance in text: rs13830

PubMed Link: 23029095

Variant Present in the following documents:

• Main text
• pone.0045558.pdf

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Genome-wide survey of allele-specific splicing in humans.

Bmc Genomics

Nembaware, Victoria V; Lupindo, Bukiwe B; Schouest, Katherine K; Spillane, Charles C; Scheffler, Konrad K; Seoighe, Cathal C

Publication Date: 2008-06-02

Variant appearance in text: rs13830

PubMed Link: 18518984

Variant Present in the following documents:

• Main text
• 1471-2164-9-265.pdf

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