Publications:

Rapid screening of UPB1 gene variations by high resolution melting curve analysis.

Experimental And Therapeutic Medicine

Xu, Xiaowei X; Zheng, Jie J; Zou, Qianqian Q; Wang, Chao C; Zhang, Xinjie X; Wang, Xuetao X; Liu, Yang Y; Shu, Jianbo J

Publication Date: 2021-04

Variant appearance in text: UPB1: 853G>A

PubMed Link: 33692834

Variant Present in the following documents:

• Main text
• etm-21-04-09834.pdf

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Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry

Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ

Publication Date: 2021-09

Variant appearance in text: UPB1: A285T

PubMed Link: 33483695

Variant Present in the following documents:

• 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3

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In Vitro Assessment of Fluoropyrimidine-Metabolizing Enzymes: Dihydropyrimidine Dehydrogenase, Dihydropyrimidinase, and β-Ureidopropionase.

Journal Of Clinical Medicine

Hishinuma, Eiji E; Gutiérrez Rico, Evelyn E; Hiratsuka, Masahiro M

Publication Date: 2020-07-22

Variant appearance in text: UPB1: 853G>A; A285T; rs1375840064

PubMed Link: 32707991

Variant Present in the following documents:

• Main text
• jcm-09-02342.pdf

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Clinical and genetic analysis of 7 Chinese patients with β-ureidopropionase deficiency.

Medicine

Fang, Yulian Y; Cai, Chunquan C; Wang, Chao C; Sun, Bei B; Zhang, Xinjie X; Fan, Wenxuan W; Hu, Wenchao W; Meng, Yingtao Y; Lin, Shuxiang S; Zhang, Chunhua C; Zhang, Yuqin Y; Shu, Jianbo J

Publication Date: 2019-01

Variant appearance in text: UPB1: 853G>A; A285T

PubMed Link: 30608453

Variant Present in the following documents:

• Main text
• medi-98-e14021.pdf

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