Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: CFTR: 3208C>T; Arg1070Trp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Organoid Technology and Its Role for Theratyping Applications in Cystic Fibrosis.

Children (Basel, Switzerland)

Conti, Jessica J; Sorio, Claudio C; Melotti, Paola P

Publication Date: 2022-12-20

Variant appearance in text: CFTR: R1070W

PubMed Link: 36670555

Variant Present in the following documents:

• children-10-00004.pdf

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Role of inhaled antibiotics in the era of highly effective CFTR modulators.

European Respiratory Review : An Official Journal Of The European Respiratory Society

Elborn, J Stuart JS; Blasi, Francesco F; Burgel, Pierre-Régis PR; Peckham, Daniel D

Publication Date: 2023-03-31

Variant appearance in text: CFTR: R1070W

PubMed Link: 36631132

Variant Present in the following documents:

• Main text
• ERR-0154-2022.pdf

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Acting on the CFTR Membrane-Spanning Domains Interface Rescues Some Misfolded Mutants.

International Journal Of Molecular Sciences

Baatallah, Nesrine N; Elbahnsi, Ahmad A; Chevalier, Benoit B; Castanier, Solène S; Mornon, Jean-Paul JP; Pranke, Iwona I; Edelman, Aleksander A; Sermet-Gaudelus, Isabelle I; Callebaut, Isabelle I; Hinzpeter, Alexandre A

Publication Date: 2022-12-19

Variant appearance in text: CFTR: R1070W

PubMed Link: 36555865

Variant Present in the following documents:

• Main text
• ijms-23-16225.pdf

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Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Nature Communications

Chan, Sock Hoai SH; Bylstra, Yasmin Y; Teo, Jing Xian JX; Kuan, Jyn Ling JL; Bertin, Nicolas N; Gonzalez-Porta, Mar M; Hebrard, Maxime M; Tirado-Magallanes, Roberto R; Tan, Joanna Hui Juan JHJ; Jeyakani, Justin J; Li, Zhihui Z; Chai, Jin Fang JF; Chong, Yap Seng YS; Davila, Sonia S; Goh, Liuh Ling LL; Lee, Eng Sing ES; Wong, Eleanor E; Wong, Tien Yin TY; , ; Prabhakar, Shyam S; Liu, Jianjun J; Cheng, Ching-Yu CY; Eisenhaber, Birgit B; Karnani, Neerja N; Leong, Khai Pang KP; Sim, Xueling X; Yeo, Khung Keong KK; Chambers, John C JC; Tai, E-Shyong ES; Tan, Patrick P; Jamuar, Saumya S SS; Ngeow, Joanne J; Lim, Weng Khong WK

Publication Date: 2022-11-05

Variant appearance in text: rs202179988

PubMed Link: 36335097

Variant Present in the following documents:

• Main text
• 41467_2022_Article_34116.pdf

View BVdb publication page

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Virtual Drug Repositioning as a Tool to Identify Natural Small Molecules That Synergize with Lumacaftor in F508del-CFTR Binding and Rescuing.

International Journal Of Molecular Sciences

Fossa, Paola P; Uggeri, Matteo M; Orro, Alessandro A; Urbinati, Chiara C; Rondina, Alessandro A; Milanesi, Maria M; Pedemonte, Nicoletta N; Pesce, Emanuela E; Padoan, Rita R; Ford, Robert C RC; Meng, Xin X; Rusnati, Marco M; D'Ursi, Pasqualina P

Publication Date: 2022-10-14

Variant appearance in text: CFTR: R1070W

PubMed Link: 36293130

Variant Present in the following documents:

• Main text
• ijms-23-12274.pdf

View BVdb publication page

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One Size Does Not Fit All: The Past, Present and Future of Cystic Fibrosis Causal Therapies.

Cells

Ensinck, Marjolein M MM; Carlon, Marianne S MS

Publication Date: 2022-06-08

Variant appearance in text: CFTR: R1070W

PubMed Link: 35740997

Variant Present in the following documents:

• Main text
• cells-11-01868.pdf

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Molecular mechanisms of cystic fibrosis - how mutations lead to misfunction and guide therapy.

Bioscience Reports

Farinha, Carlos M CM; Callebaut, Isabelle I

Publication Date: 2022-07-29

Variant appearance in text: CFTR: R1070W

PubMed Link: 35707985

Variant Present in the following documents:

• Main text
• bsr-42-bsr20212006.pdf

View BVdb publication page

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CFTR Modulators in People with Cystic Fibrosis: Real-World Evidence in France.

Cells

Regard, Lucile L; Martin, Clémence C; Burnet, Espérie E; Da Silva, Jennifer J; Burgel, Pierre-Régis PR

Publication Date: 2022-05-28

Variant appearance in text: CFTR: R1070W

PubMed Link: 35681464

Variant Present in the following documents:

• cells-11-01769.pdf

View BVdb publication page

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Author Correction: Spatial covariance analysis reveals the residue-by-residue thermodynamic contribution of variation to the CFTR fold.

Communications Biology

Anglès, Frédéric F; Wang, Chao C; Balch, William E WE

Publication Date: 2022-05-18

Variant appearance in text: CFTR: R1070W

PubMed Link: 35585144

Variant Present in the following documents:

• 42003_2022_3457_MOESM1_ESM.pdf

View BVdb publication page

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CFTR Modulator Therapies: Potential Impact on Airway Infections in Cystic Fibrosis.

Cells

Saluzzo, Francesca F; Riberi, Luca L; Messore, Barbara B; Loré, Nicola Ivan NI; Esposito, Irene I; Bignamini, Elisabetta E; De Rose, Virginia V

Publication Date: 2022-04-06

Variant appearance in text: CFTR: R1070W

PubMed Link: 35406809

Variant Present in the following documents:

• cells-11-01243.pdf

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Structural Comparative Modeling of Multi-Domain F508del CFTR.

Biomolecules

McDonald, Eli Fritz EF; Woods, Hope H; Smith, Shannon T ST; Kim, Minsoo M; Schoeder, Clara T CT; Plate, Lars L; Meiler, Jens J

Publication Date: 2022-03-18

Variant appearance in text: CFTR: R1070W

PubMed Link: 35327663

Variant Present in the following documents:

• Main text
• biomolecules-12-00471.pdf

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Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Orphanet Journal Of Rare Diseases

Ni, Qi Q; Chen, Xiang X; Zhang, Ping P; Yang, Lin L; Lu, Yulan Y; Xiao, Feifan F; Wu, Bingbing B; Wang, Huijun H; Zhou, Wenhao W; Dong, Xinran X

Publication Date: 2022-03-21

Variant appearance in text: CFTR: 3208C>T; R1070W

PubMed Link: 35313924

Variant Present in the following documents:

• 13023_2022_2279_MOESM3_ESM.xls, sheet 1

View BVdb publication page

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Progress in precision medicine in cystic fibrosis: a focus on CFTR modulator therapy.

Breathe (Sheffield, England)

Tewkesbury, Daniel H DH; Robey, Rebecca C RC; Barry, Peter J PJ

Publication Date: 2021-12

Variant appearance in text: CFTR: R1070W

PubMed Link: 35035569

Variant Present in the following documents:

• Main text
• EDU-0112-2021.pdf

View BVdb publication page

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Rescue of Mutant CFTR Trafficking Defect by the Investigational Compound MCG1516A.

Cells

Lopes-Pacheco, Miquéias M; Bacalhau, Mafalda M; Ramalho, Sofia S SS; Silva, Iris A L IAL; Ferreira, Filipa C FC; Carlile, Graeme W GW; Thomas, David Y DY; Farinha, Carlos M CM; Hanrahan, John W JW; Amaral, Margarida D MD

Publication Date: 2022-01-01

Variant appearance in text: CFTR: R1070W

PubMed Link: 35011698

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rescue of Mutant CFTR Trafficking Defect by the Investigational Compound MCG1516A.

Cells

Lopes-Pacheco, Miquéias M; Bacalhau, Mafalda M; Ramalho, Sofia S SS; Silva, Iris A L IAL; Ferreira, Filipa C FC; Carlile, Graeme W GW; Thomas, David Y DY; Farinha, Carlos M CM; Hanrahan, John W JW; Amaral, Margarida D MD

Publication Date: 2022-01-01

Variant appearance in text: CFTR: R1070W

PubMed Link: 35011698

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic Modifying Factors of Cystic Fibrosis Phenotype: A Challenge for Modern Medicine.

Journal Of Clinical Medicine

Butnariu, Lăcrămioara Ionela LI; Țarcă, Elena E; Cojocaru, Elena E; Rusu, Cristina C; Moisă, Ștefana Maria ȘM; Leon Constantin, Maria-Magdalena MM; Gorduza, Eusebiu Vlad EV; Trandafir, Laura Mihaela LM

Publication Date: 2021-12-13

Variant appearance in text: CFTR: R1070W

PubMed Link: 34945117

Variant Present in the following documents:

• Main text
• jcm-10-05821.pdf

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Genetic Modifying Factors of Cystic Fibrosis Phenotype: A Challenge for Modern Medicine.

Journal Of Clinical Medicine

Butnariu, Lăcrămioara Ionela LI; Țarcă, Elena E; Cojocaru, Elena E; Rusu, Cristina C; Moisă, Ștefana Maria ȘM; Leon Constantin, Maria-Magdalena MM; Gorduza, Eusebiu Vlad EV; Trandafir, Laura Mihaela LM

Publication Date: 2021-12-13

Variant appearance in text: CFTR: R1070W

PubMed Link: 34945117

Variant Present in the following documents:

• Main text
• jcm-10-05821.pdf

View BVdb publication page

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A Comparative Analysis of Pricing and Reimbursement of Cystic Fibrosis Transmembrane Conductance Regulator Modulators in Europe.

Frontiers In Pharmacology

Abdallah, Khadidja K; De Boeck, Kris K; Dooms, Marc M; Simoens, Steven S

Publication Date: 2021

Variant appearance in text: CFTR: R1070W

PubMed Link: 34858177

Variant Present in the following documents:

• Main text
• fphar-12-746710.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: rs202179988

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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The Extent and Impact of Variation in ADME Genes in Sub-Saharan African Populations.

Frontiers In Pharmacology

da Rocha, Jorge E B JEB; Othman, Houcemeddine H; Botha, Gerrit G; Cottino, Laura L; Twesigomwe, David D; Ahmed, Samah S; Drögemöller, Britt I BI; Fadlelmola, Faisal M FM; Machanick, Philip P; Mbiyavanga, Mamana M; Panji, Sumir S; Wright, Galen E B GEB; Adebamowo, Clement C; Matshaba, Mogomotsi M; Ramsay, Michéle M; Simo, Gustave G; Simuunza, Martin C MC; Tiemessen, Caroline T CT; Baldwin, Sandra S; Chiano, Mathias M; Cox, Charles C; Gross, Annette S AS; Thomas, Pamela P; Gamo, Francisco-Javier FJ; Hazelhurst, Scott S

Publication Date: 2021

Variant appearance in text: rs202179988

PubMed Link: 34721006

Variant Present in the following documents:

• Main text
• fphar-12-634016.pdf

View BVdb publication page

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State of the Art on Approved Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulators and Triple-Combination Therapy.

Pharmaceuticals (Basel, Switzerland)

Meoli, Aniello A; Fainardi, Valentina V; Deolmi, Michela M; Chiopris, Giulia G; Marinelli, Francesca F; Caminiti, Caterina C; Esposito, Susanna S; Pisi, Giovanna G

Publication Date: 2021-09-15

Variant appearance in text: CFTR: R1070W

PubMed Link: 34577628

Variant Present in the following documents:

• Main text
• pharmaceuticals-14-00928.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: rs202179988

PubMed Link: 34541464

Variant Present in the following documents:

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

View BVdb publication page

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New Therapies to Correct the Cystic Fibrosis Basic Defect.

International Journal Of Molecular Sciences

Bergeron, Christelle C; Cantin, André M AM

Publication Date: 2021-06-08

Variant appearance in text: CFTR: R1070W

PubMed Link: 34201249

Variant Present in the following documents:

• Main text
• ijms-22-06193.pdf

View BVdb publication page

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Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.

Human Mutation

Nykamp, Keith K; Truty, Rebecca R; Riethmaier, Darlene D; Wilkinson, Julia J; Bristow, Sara L SL; Aguilar, Sienna S; Neitzel, Dana D; Faulkner, Nicole N; Aradhya, Swaroop S

Publication Date: 2021-09

Variant appearance in text: CFTR: 3208C>T; Arg1070Trp

PubMed Link: 34196078

Variant Present in the following documents:

• HUMU-42-1165-s002.xlsx, sheet 1

View BVdb publication page

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Treatment of Pulmonary Disease of Cystic Fibrosis: A Comprehensive Review.

Antibiotics (Basel, Switzerland)

Girón Moreno, Rosa María RM; García-Clemente, Marta M; Diab-Cáceres, Layla L; Martínez-Vergara, Adrián A; Martínez-García, Miguel Ángel MÁ; Gómez-Punter, Rosa Mar RM

Publication Date: 2021-04-23

Variant appearance in text: CFTR: R1070W

PubMed Link: 33922413

Variant Present in the following documents:

• Main text

View BVdb publication page

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The CFTR P67L variant reveals a key role for N-terminal lasso helices in channel folding, maturation, and pharmacologic rescue.

The Journal Of Biological Chemistry

Sabusap, Carleen Mae CM; Joshi, Disha D; Simhaev, Luba L; Oliver, Kathryn E KE; Senderowitz, Hanoch H; van Willigen, Marcel M; Braakman, Ineke I; Rab, Andras A; Sorscher, Eric J EJ; Hong, Jeong S JS

Publication Date: 2021

Variant appearance in text: CFTR: R1070W

PubMed Link: 33781744

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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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: CFTR: 3208C>T; rs202179988

PubMed Link: 33600428

Variant Present in the following documents:

• pgen.1009323.s003.xlsx, sheet 1

View BVdb publication page

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F1099L-CFTR (c.3297C>G) has Impaired Channel Function and Associates with Mild Disease Phenotypes in Two Pediatric Patients.

Life (Basel, Switzerland)

Zhang, Xiaoying X; Hothi, Jaspal S JS; Zhang, Yanhui H YH; Ren, Aixia A; Rock, Michael J MJ; Srinivasan, Saumini S; Stokes, Dennis C DC; Naren, Anjaparavanda P AP; Zhang, Weiqiang W

Publication Date: 2021-02-08

Variant appearance in text: CFTR: R1070W

PubMed Link: 33567498

Variant Present in the following documents:

• Main text
• life-11-00131.pdf

View BVdb publication page

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Novel therapeutic approaches for the management of cystic fibrosis.

Multidisciplinary Respiratory Medicine

Jaques, Ryan R; Shakeel, Arslan A; Hoyle, Cameron C

Publication Date: 2020-01-28

Variant appearance in text: CFTR: R1070W

PubMed Link: 33282281

Variant Present in the following documents:

• Main text
• mrm-15-1-690.pdf

View BVdb publication page

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Fluorescence assay for simultaneous quantification of CFTR ion-channel function and plasma membrane proximity.

The Journal Of Biological Chemistry

Prins, Stella S; Langron, Emily E; Hastings, Cato C; Hill, Emily J EJ; Stefan, Andra C AC; Griffin, Lewis D LD; Vergani, Paola P

Publication Date: 2020-12-04

Variant appearance in text: CFTR: R1070W

PubMed Link: 32934006

Variant Present in the following documents:

• Main text
• main.pdf
• mmc1.pdf

View BVdb publication page

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Full Rescue of F508del-CFTR Processing and Function by CFTR Modulators Can Be Achieved by Removal of Two Regulatory Regions.

International Journal Of Molecular Sciences

Uliyakina, Inna I; Botelho, Hugo M HM; da Paula, Ana C AC; Afonso, Sara S; Lobo, Miguel J MJ; Felício, Verónica V; Farinha, Carlos M CM; Amaral, Margarida D MD

Publication Date: 2020-06-25

Variant appearance in text: CFTR: R1070W

PubMed Link: 32630527

Variant Present in the following documents:

• Main text
• ijms-21-04524.pdf

View BVdb publication page

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Transcriptomic and Proteostasis Networks of CFTR and the Development of Small Molecule Modulators for the Treatment of Cystic Fibrosis Lung Disease.

Genes

Strub, Matthew D MD; McCray, Paul B PB

Publication Date: 2020-05-13

Variant appearance in text: CFTR: R1070W

PubMed Link: 32414011

Variant Present in the following documents:

• Main text

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: CFTR: 3208C>T; Arg1070Trp; rs202179988

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Functional and Pharmacological Characterization of the Rare CFTR Mutation W361R.

Frontiers In Pharmacology

Billet, Arnaud A; Elbahnsi, Ahmad A; Jollivet-Souchet, Mathilde M; Hoffmann, Brice B; Mornon, Jean-Paul JP; Callebaut, Isabelle I; Becq, Frédéric F

Publication Date: 2020

Variant appearance in text: CFTR: R1070W

PubMed Link: 32256364

Variant Present in the following documents:

• Main text
• fphar-11-00295.pdf

View BVdb publication page

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Cystic Fibrosis Transmembrane Conductance Regulator Modulator Therapy: A Review for the Otolaryngologist.

American Journal Of Rhinology & Allergy

Lee, Saangyoung E SE; Farzal, Zainab Z; Daniels, M Leigh Anne MLA; Thorp, Brian D BD; Zanation, Adam M AM; Senior, Brent A BA; Ebert, Charles S CS; Kimple, Adam J AJ

Publication Date: 2020-07

Variant appearance in text: CFTR: R1070W

PubMed Link: 32168995

Variant Present in the following documents:

• Main text

View BVdb publication page

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CFTR Modulators: The Changing Face of Cystic Fibrosis in the Era of Precision Medicine.

Frontiers In Pharmacology

Lopes-Pacheco, Miquéias M

Publication Date: 2019

Variant appearance in text: CFTR: R1070W

PubMed Link: 32153386

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cost of precision medicine at a referral center for cystic fibrosis.

Jornal Brasileiro De Pneumologia : Publicacao Oficial Da Sociedade Brasileira De Pneumologia E Tisilogia

Marson, Fernando Augusto Lima FAL

Publication Date: 2020-03-02

Variant appearance in text: CFTR: R1070W

PubMed Link: 32130336

Variant Present in the following documents:

• Main text
• 1806-3713-jbpneu-46-02-e20190308.pdf

View BVdb publication page

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: CFTR: 3208C>T; R1070W

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

View BVdb publication page

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The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature

,

Publication Date: 2019-12

Variant appearance in text: CFTR: 3208C>T; Arg1070Trp; rs202179988

PubMed Link: 31802016

Variant Present in the following documents:

• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 14
• 41586_2019_1793_MOESM3_ESM.xlsx, sheet 15

View BVdb publication page

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Nanomolar-potency 'co-potentiator' therapy for cystic fibrosis caused by a defined subset of minimal function CFTR mutants.

Scientific Reports

Phuan, Puay-Wah PW; Tan, Joseph-Anthony JA; Rivera, Amber A AA; Zlock, Lorna L; Nielson, Dennis W DW; Finkbeiner, Walter E WE; Haggie, Peter M PM; Verkman, Alan S AS

Publication Date: 2019-11-27

Variant appearance in text: CFTR: R1070W

PubMed Link: 31776420

Variant Present in the following documents:

• 41598_2019_Article_54158.pdf

View BVdb publication page

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