Publications:

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Genomic stability at the coding regions of the multidrug transporter gene ABCB1: insights into the development of alternative drug resistance mechanisms in human leukemia cells.

Cancer Drug Resistance (Alhambra, Calif.)

Chen, Kevin G KG; Duran, George E GE; Mogul, Mark J MJ; Wang, Yan C YC; Ross, Kevin L KL; Jaffrézou, Jean-Pierre JP; Huff, Lyn M LM; Johnson, Kory R KR; Fojo, Tito T; Lacayo, Norman J NJ; Sikic, Branimir I BI

Publication Date: 2020

Variant appearance in text: rs397508730

PubMed Link: 34541464

Variant Present in the following documents:

• cdr-3-959-SupplementaryMaterials.xlsx, sheet 4

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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: CFTR: 482A>G; Tyr161Cys; rs397508730

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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Potential of Intestinal Current Measurement for Personalized Treatment of Patients with Cystic Fibrosis.

Journal Of Personalized Medicine

Graeber, Simon Y SY; Vitzthum, Constanze C; Mall, Marcus A MA

Publication Date: 2021-05-08

Variant appearance in text: CFTR: Y161C

PubMed Link: 34066648

Variant Present in the following documents:

• Main text
• jpm-11-00384.pdf

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Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.

Plos Genetics

Yu, Mullin Ho Chung MHC; Chan, Marcus Chun Yin MCY; Chung, Claudia Ching Yan CCY; Li, Andrew Wang Tat AWT; Yip, Chara Yin Wa CYW; Mak, Christopher Chun Yu CCY; Chau, Jeffrey Fong Ting JFT; Lee, Mianne M; Fung, Jasmine Lee Fong JLF; Tsang, Mandy Ho Yin MHY; Chan, Joshua Chun Ki JCK; Wong, Wilfred Hing Sang WHS; Yang, Jing J; Chui, William Chun Ming WCM; Chung, Patrick Ho Yu PHY; Yang, Wanling W; Lee, So Lun SL; Chan, Godfrey Chi Fung GCF; Tam, Paul Kwong Hang PKH; Lau, Yu Lung YL; Tang, Clara Sze Man CSM; Yeung, Kit San KS; Chung, Brian Hon Yin BHY

Publication Date: 2021-02

Variant appearance in text: rs397508730

PubMed Link: 33600428

Variant Present in the following documents:

• pgen.1009323.s010.xlsx, sheet 1

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Investigating CFTR and KCa3.1 Protein/Protein Interactions.

Plos One

Klein, Hélène H; Abu-Arish, Asmahan A; Trinh, Nguyen Thu Ngan NT; Luo, Yishan Y; Wiseman, Paul W PW; Hanrahan, John W JW; Brochiero, Emmanuelle E; Sauvé, Rémy R

Publication Date: 2016

Variant appearance in text: CFTR: Y161C

PubMed Link: 27092946

Variant Present in the following documents:

• Main text
• pone.0153665.pdf

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The K+ channel opener 1-EBIO potentiates residual function of mutant CFTR in rectal biopsies from cystic fibrosis patients.

Plos One

Roth, Eva K EK; Hirtz, Stephanie S; Duerr, Julia J; Wenning, Daniel D; Eichler, Irmgard I; Seydewitz, Hans H HH; Amaral, Margarida D MD; Mall, Marcus A MA

Publication Date: 2011

Variant appearance in text: CFTR: Y161C

PubMed Link: 21909392

Variant Present in the following documents:

• Main text
• pone.0024445.pdf

View BVdb publication page

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