Publications:

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Genetic spectrum of Chinese children with cystic fibrosis: comprehensive data analysis from the main referral centre in China.

Journal Of Medical Genetics

Shen, Yuelin Y; Tang, Xiaolei X; Chen, Qionghua Q; Xu, Hui H; Liu, Hui H; Liu, Jinrong J; Yang, Haiming H; Li, Huimin H; Zhao, Shunying S

Publication Date: 2022-07-20

Variant appearance in text: CFTR: 3196C>A; Arg1066Ser

PubMed Link: 35858753

Variant Present in the following documents:

• jmg-2022-108501supp001.pdf

View BVdb publication page

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Frequency of allele variations in the CFTR gene in a Mexican population.

Bmc Medical Genomics

Cantú-Reyna, Consuelo C; Galindo-Ramírez, Roberto R; Vázquez-Cantú, Mercedes M; Haddad-Talancón, Lorenza L; García-Muñoz, Willebaldo W

Publication Date: 2021-11-05

Variant appearance in text: rs78194216

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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A review of cystic fibrosis: Basic and clinical aspects.

Animal Models And Experimental Medicine

Chen, Qionghua Q; Shen, Yuelin Y; Zheng, Jingyang J

Publication Date: 2021-09

Variant appearance in text: CFTR: 3196C>A

PubMed Link: 34557648

Variant Present in the following documents:

• Main text
• AME2-4-220.pdf

View BVdb publication page

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A review of cystic fibrosis: Basic and clinical aspects.

Animal Models And Experimental Medicine

Chen, Qionghua Q; Shen, Yuelin Y; Zheng, Jingyang J

Publication Date: 2021-09

Variant appearance in text: CFTR: 3196C>A

PubMed Link: 34557648

Variant Present in the following documents:

• Main text
• AME2-4-220.pdf

View BVdb publication page

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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: rs78194216

PubMed Link: 34541464

Variant Present in the following documents:

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

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Prognosis and treatment of 46 Chinese pediatric cystic fibrosis patients.

Bmc Pediatrics

Chen, Qionghua Q; Shen, Yuelin Y; Xu, Hui H; Tang, Xiaolei X; Yang, Haiming H; Zhao, Shunying S

Publication Date: 2021-07-28

Variant appearance in text: CFTR: 3196C>A

PubMed Link: 34315429

Variant Present in the following documents:

• 12887_2021_Article_2789.pdf

View BVdb publication page

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A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.

Journal Of Personalized Medicine

Kiseleva, Anna V AV; Klimushina, Marina V MV; Sotnikova, Evgeniia A EA; Divashuk, Mikhail G MG; Ershova, Alexandra I AI; Skirko, Olga P OP; Kurilova, Olga V OV; Zharikova, Anastasia A AA; Khlebus, Eleonora Yu EY; Efimova, Irina A IA; Pokrovskaya, Maria S MS; Slominsky, Petr A PA; Shalnova, Svetlana A SA; Meshkov, Alexey N AN; Drapkina, Oxana M OM

Publication Date: 2020-09-22

Variant appearance in text: rs78194216

PubMed Link: 32971794

Variant Present in the following documents:

• Main text
• jpm-10-00140.pdf

View BVdb publication page

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Characterization of clinical and genetic spectrum of Chinese patients with cystic fibrosis.

Orphanet Journal Of Rare Diseases

Liu, Keqiang K; Xu, Wenshuai W; Xiao, Meng M; Zhao, Xinyue X; Bian, Chun C; Zhang, Qianli Q; Song, Jiaxing J; Chen, Keqi K; Tian, Xinlun X; Liu, Yaping Y; Xu, Kai-Feng KF; Zhang, Xue X

Publication Date: 2020-06-15

Variant appearance in text: CFTR: 3196C>A; R1066S

PubMed Link: 32539862

Variant Present in the following documents:

• Main text
• 13023_2020_Article_1393.pdf

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs78194216

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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NOTCH1 mutations occur early during cutaneous squamous cell carcinogenesis.

The Journal Of Investigative Dermatology

South, Andrew P AP; Purdie, Karin J KJ; Watt, Stephen A SA; Haldenby, Sam S; den Breems, Nicoline N; Dimon, Michelle M; Arron, Sarah T ST; Kluk, Michael J MJ; Aster, Jon C JC; McHugh, Angela A; Xue, Dylan J DJ; Dayal, Jasbani Hs JH; Robinson, Kim S KS; Rizvi, Sm Hasan SH; Proby, Charlotte M CM; Harwood, Catherine A CA; Leigh, Irene M IM

Publication Date: 2014-10

Variant appearance in text: rs78194216

PubMed Link: 24662767

Variant Present in the following documents:

• NIHMS57574-supplement-data_tables.xlsx, sheet 2

View BVdb publication page

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Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

Nature Genetics

Sosnay, Patrick R PR; Siklosi, Karen R KR; Van Goor, Fredrick F; Kaniecki, Kyle K; Yu, Haihui H; Sharma, Neeraj N; Ramalho, Anabela S AS; Amaral, Margarida D MD; Dorfman, Ruslan R; Zielenski, Julian J; Masica, David L DL; Karchin, Rachel R; Millen, Linda L; Thomas, Philip J PJ; Patrinos, George P GP; Corey, Mary M; Lewis, Michelle H MH; Rommens, Johanna M JM; Castellani, Carlo C; Penland, Christopher M CM; Cutting, Garry R GR

Publication Date: 2013-10

Variant appearance in text: rs78194216

PubMed Link: 23974870

Variant Present in the following documents:

• NIHMS512446-supplement-12.xlsx, sheet 2
• NIHMS512446-supplement-12.xlsx, sheet 1

View BVdb publication page

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