Publications:

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Rare genetic variant burden in DPYD predicts severe fluoropyrimidine-related toxicity risk.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie

De Mattia, Elena E; Silvestri, Marco M; Polesel, Jerry J; Ecca, Fabrizio F; Mezzalira, Silvia S; Scarabel, Lucia L; Zhou, Yitian Y; Roncato, Rossana R; Lauschke, Volker M VM; Calza, Stefano S; Spina, Michele M; Puglisi, Fabio F; Toffoli, Giuseppe G; Cecchin, Erika E

Publication Date: 2022-10

Variant appearance in text: rs1042482

PubMed Link: 36063648

Variant Present in the following documents:

• Main text

View BVdb publication page

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PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology

Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S

Publication Date: 2019-10-22

Variant appearance in text: rs1042482

PubMed Link: 31640808

Variant Present in the following documents:

• 13059_2019_1838_MOESM3_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: rs1042482

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: rs1042482

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

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Screening for 392 polymorphisms in 141 pharmacogenes.

Biomedical Reports

Kim, Jason Yongha JY; Cheong, Hyun Sub HS; Park, Tae-Joon TJ; Shin, Hee Jung HJ; Seo, Doo Won DW; Na, Han Sung HS; Chung, Myeon Woo MW; Shin, Hyoung Doo HD

Publication Date: 2014-07

Variant appearance in text: rs1042482

PubMed Link: 24944790

Variant Present in the following documents:

• Main text

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Screening of dihydropyrimidine dehydrogenase genetic variants by direct sequencing in different ethnic groups.

Journal Of Korean Medical Science

Shin, Joong-Gon JG; Cheong, Hyun Sub HS; Kim, Jason Yongha JY; Kim, Lyoung Hyo LH; Han, Chang Soo CS; Kim, Ji On JO; Kim, Hae Deun HD; Kim, Young Hoon YH; Chung, Myeon Woo MW; Han, Soon Young SY; Shin, Hyoung Doo HD

Publication Date: 2013-08

Variant appearance in text: rs1042482

PubMed Link: 23960437

Variant Present in the following documents:

• jkms-28-1129.pdf

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