Publications:

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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: rs397508363

PubMed Link: 34740355

Variant Present in the following documents:

• 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1

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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: rs397508363

PubMed Link: 34541464

Variant Present in the following documents:

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

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Clinical and molecular characterization of the R751L-CFTR mutation.

American Journal Of Physiology. Lung Cellular And Molecular Physiology

Haq, Iram J IJ; Althaus, Mike M; Gardner, Aaron Ions AI; Yeoh, Hui Ying HY; Joshi, Urjita U; Saint-Criq, Vinciane V; Verdon, Bernard B; Townshend, Jennifer J; O'Brien, Christopher C; Ben-Hamida, Mahfud M; Thomas, Matthew M; Bourke, Stephen S; van der Sluijs, Peter P; Braakman, Ineke I; Ward, Chris C; Gray, Michael A MA; Brodlie, Malcolm M

Publication Date: 2021-02-01

Variant appearance in text: CFTR: R766M

PubMed Link: 33296276

Variant Present in the following documents:

• Main text

View BVdb publication page

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Clinical and molecular characterization of the R751L-CFTR mutation.

American Journal Of Physiology. Lung Cellular And Molecular Physiology

Haq, Iram J IJ; Althaus, Mike M; Gardner, Aaron Ions AI; Yeoh, Hui Ying HY; Joshi, Urjita U; Saint-Criq, Vinciane V; Verdon, Bernard B; Townshend, Jennifer J; O'Brien, Christopher C; Ben-Hamida, Mahfud M; Thomas, Matthew M; Bourke, Stephen S; van der Sluijs, Peter P; Braakman, Ineke I; Ward, Chris C; Gray, Michael A MA; Brodlie, Malcolm M

Publication Date: 2021-02-01

Variant appearance in text: CFTR: R766M

PubMed Link: 33296276

Variant Present in the following documents:

• Main text

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: CFTR: R766M

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM8_ESM.xlsx, sheet 2

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Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.

Andrology

de Souza, D A S DAS; Faucz, F R FR; Pereira-Ferrari, L L; Sotomaior, V S VS; Raskin, S S

Publication Date: 2018-01

Variant appearance in text: CFTR: 2297G>T; R766M

PubMed Link: 29216686

Variant Present in the following documents:

• Main text

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Characterization and small-molecule stabilization of the multisite tandem binding between 14-3-3 and the R domain of CFTR.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Stevers, Loes M LM; Lam, Chan V CV; Leysen, Seppe F R SF; Meijer, Femke A FA; van Scheppingen, Daphne S DS; de Vries, Rens M J M RM; Carlile, Graeme W GW; Milroy, Lech G LG; Thomas, David Y DY; Brunsveld, Luc L; Ottmann, Christian C

Publication Date: 2016-03-01

Variant appearance in text: CFTR: R766M

PubMed Link: 26888287

Variant Present in the following documents:

• Main text

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: CFTR: R766M

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Regulation of activation and processing of the cystic fibrosis transmembrane conductance regulator (CFTR) by a complex electrostatic interaction between the regulatory domain and cytoplasmic loop 3.

The Journal Of Biological Chemistry

Wang, Guangyu G; Duan, Dayue Darrel DD

Publication Date: 2012-11-23

Variant appearance in text: CFTR: R766M

PubMed Link: 23060444

Variant Present in the following documents:

• Main text

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CFTR regulatory region interacts with NBD1 predominantly via multiple transient helices.

Nature Structural & Molecular Biology

Baker, Jennifer M R JM; Hudson, Rhea P RP; Kanelis, Voula V; Choy, Wing-Yiu WY; Thibodeau, Patrick H PH; Thomas, Philip J PJ; Forman-Kay, Julie D JD

Publication Date: 2007-08

Variant appearance in text: CFTR: R766M

PubMed Link: 17660831

Variant Present in the following documents:

• Main text

View BVdb publication page

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