CFTR c.349C>T ;(p.R117C)

Variant ID: 7-117171028-C-T

NM_000492.3(CFTR):c.349C>T;(p.R117C)

This variant was identified in 86 publications

View GRCh38 version.




Publications:


The CFTR Gene Germline Heterozygous Pathogenic Variants in Russian Patients with Malignant Neoplasms and Healthy Carriers: 11,800 WGS Results.

International Journal Of Molecular Sciences
Makarova, Maria M; Nemtsova, Marina M; Danishevich, Anastasiia A; Chernevskiy, Denis D; Belenikin, Maxim M; Krinitsina, Anastasiia A; Baranova, Elena E; Sagaydak, Olesya O; Vorontsova, Maria M; Khatkov, Igor I; Zhukova, Lyudmila L; Bodunova, Natalia N; Nikolaev, Sergey S; Byakhova, Mariya M; Semenova, Anna A; Galkin, Vsevolod V; Gadzhieva, Saida S
Publication Date: 2023-04-27

Variant appearance in text: CFTR: 349C>T; Arg117Cys; rs77834169
PubMed Link: 37175647
Variant Present in the following documents:
  • ijms-24-07940.pdf
View BVdb publication page



Magnetic resonance imaging detects onset and association with lung disease severity of bronchial artery dilatation in cystic fibrosis.

Erj Open Research
Leutz-Schmidt, Patricia P; Optazaite, Daiva-Elzbieta DE; Sommerburg, Olaf O; Eichinger, Monika M; Wege, Sabine S; Steinke, Eva E; Graeber, Simon Y SY; Puderbach, Michael U MU; Schenk, Jens-Peter JP; Alrajab, Abdulsattar A; Triphan, Simon M F SMF; Kauczor, Hans-Ulrich HU; Stahl, Mirjam M; Mall, Marcus A MA; Wielpütz, Mark O MO
Publication Date: 2023-03

Variant appearance in text: CFTR: R117C
PubMed Link: 37009019
Variant Present in the following documents:
  • 00473-2022.SUPPLEMENT.pdf
View BVdb publication page



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: 349C>T; Arg117Cys
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



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: R117C
PubMed Link: 36670555
Variant Present in the following documents:
  • children-10-00004.pdf
View BVdb publication page



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: R117C
PubMed Link: 36631132
Variant Present in the following documents:
  • Main text
  • ERR-0154-2022.pdf
View BVdb publication page



Coronary artery disease in patients with cystic fibrosis - A case series and review of the literature.

Journal Of Clinical & Translational Endocrinology
Sandouk, Zahrae Z; Nachawi, Noura N; Simon, Richard R; Wyckoff, Jennifer J; Putman, Melissa S MS; Kiel, Sarah S; Soltman, Sarah S; Moran, Antoinette A; Moheet, Amir A
Publication Date: 2022-12

Variant appearance in text: CFTR: R117C
PubMed Link: 36267108
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Impact of Pancreatitis-Associated Protein on Newborn Screening Outcomes and Detection of CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID): A Monocentric Prospective Pilot Experience.

International Journal Of Neonatal Screening
Bianchimani, Chiara C; Dolce, Daniela D; Centrone, Claudia C; Campana, Silvia S; Ravenni, Novella N; Orioli, Tommaso T; Camera, Erica E; Mergni, Gianfranco G; Fevola, Cristina C; Bonomi, Paolo P; Taccetti, Giovanni G; Terlizzi, Vito V
Publication Date: 2022-08-03

Variant appearance in text: CFTR: R117C
PubMed Link: 35997436
Variant Present in the following documents:
  • IJNS-08-00046.pdf
View BVdb publication page



Cystic fibrosis and jejunoileal atresia: A clinical case.

Clinical Case Reports
da Cunha, Sara Bernardes SB; Rasteiro, Cátia C; Silva, Manuela M; Dias, Mariana M; Araújo, Célia C; Ramalho, Carla C
Publication Date: 2022-08

Variant appearance in text: CFTR: R117C
PubMed Link: 35949411
Variant Present in the following documents:
  • Main text
  • CCR3-10-e05869.pdf
View BVdb publication page



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: R117C
PubMed Link: 35681464
Variant Present in the following documents:
  • cells-11-01769.pdf
View BVdb publication page



Accounting for population structure in genetic studies of cystic fibrosis.

Hgg Advances
Kingston, Hanley H; Stilp, Adrienne M AM; Gordon, William W; Broome, Jai J; Gogarten, Stephanie M SM; Ling, Hua H; Barnard, John J; Dugan-Perez, Shannon S; Ellinor, Patrick T PT; Gabriel, Stacey S; Germer, Soren S; Gibbs, Richard A RA; Gupta, Namrata N; Rice, Kenneth K; Smith, Albert V AV; Zody, Michael C MC; , ; , ; Blackman, Scott M SM; Cutting, Garry G; Knowles, Michael R MR; Zhou, Yi-Hui YH; Rosenfeld, Margaret M; Gibson, Ronald L RL; Bamshad, Michael M; Fohner, Alison A; Blue, Elizabeth E EE
Publication Date: 2022-07-14

Variant appearance in text: CFTR: R117C
PubMed Link: 35647563
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.pdf
View BVdb publication page



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: R117C
PubMed Link: 35585144
Variant Present in the following documents:
  • 42003_2022_3457_MOESM1_ESM.pdf
View BVdb publication page



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: R117C
PubMed Link: 35406809
Variant Present in the following documents:
  • cells-11-01243.pdf
View BVdb publication page



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: 349C>T; R117C; rs77834169
PubMed Link: 35313924
Variant Present in the following documents:
  • Main text
  • 13023_2022_Article_2279.pdf
  • 13023_2022_2279_MOESM1_ESM.xls, sheet 1
  • 13023_2022_2279_MOESM3_ESM.xls, sheet 1
View BVdb publication page



Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil.

Nature Communications
Naslavsky, Michel S MS; Scliar, Marilia O MO; Yamamoto, Guilherme L GL; Wang, Jaqueline Yu Ting JYT; Zverinova, Stepanka S; Karp, Tatiana T; Nunes, Kelly K; Ceroni, José Ricardo Magliocco JRM; de Carvalho, Diego Lima DL; da Silva Simões, Carlos Eduardo CE; Bozoklian, Daniel D; Nonaka, Ricardo R; Dos Santos Brito Silva, Nayane N; da Silva Souza, Andreia A; de Souza Andrade, Heloísa H; Passos, Marília Rodrigues Silva MRS; Castro, Camila Ferreira Bannwart CFB; Mendes-Junior, Celso T CT; Mercuri, Rafael L V RLV; Miller, Thiago L A TLA; Buzzo, Jose Leonel JL; Rego, Fernanda O FO; Araújo, Nathalia M NM; Magalhães, Wagner C S WCS; Mingroni-Netto, Regina Célia RC; Borda, Victor V; Guio, Heinner H; Rojas, Carlos P CP; Sanchez, Cesar C; Caceres, Omar O; Dean, Michael M; Barreto, Mauricio L ML; Lima-Costa, Maria Fernanda MF; Horta, Bernardo L BL; Tarazona-Santos, Eduardo E; Meyer, Diogo D; Galante, Pedro A F PAF; Guryev, Victor V; Castelli, Erick C EC; Duarte, Yeda A O YAO; Passos-Bueno, Maria Rita MR; Zatz, Mayana M
Publication Date: 2022-03-04

Variant appearance in text: CFTR: R117C; rs77834169
PubMed Link: 35246524
Variant Present in the following documents:
  • 41467_2022_28648_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity.

Iscience
Wong, Sharon L SL; Awatade, Nikhil T NT; Astore, Miro A MA; Allan, Katelin M KM; Carnell, Michael J MJ; Slapetova, Iveta I; Chen, Po-Chia PC; Capraro, Alexander A; Fawcett, Laura K LK; Whan, Renee M RM; Griffith, Renate R; Ooi, Chee Y CY; Kuyucak, Serdar S; Jaffe, Adam A; Waters, Shafagh A SA
Publication Date: 2022-01-21

Variant appearance in text: CFTR: R117C
PubMed Link: 35072004
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



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: R117C
PubMed Link: 35035569
Variant Present in the following documents:
  • Main text
  • EDU-0112-2021.pdf
View BVdb publication page



Molecular pathology of the R117H cystic fibrosis mutation is explained by loss of a hydrogen bond.

Elife
Simon, Márton A MA; Csanády, László L
Publication Date: 2021-12-06

Variant appearance in text: CFTR: R117C
PubMed Link: 34870594
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular pathology of the R117H cystic fibrosis mutation is explained by loss of a hydrogen bond.

Elife
Simon, Márton A MA; Csanády, László L
Publication Date: 2021-12-06

Variant appearance in text: CFTR: R117C
PubMed Link: 34870594
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: R117C
PubMed Link: 34858177
Variant Present in the following documents:
  • Main text
  • fphar-12-746710.pdf
View BVdb publication page



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: rs77834169
PubMed Link: 34740355
Variant Present in the following documents:
  • 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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: R117C
PubMed Link: 34577628
Variant Present in the following documents:
  • Main text
  • pharmaceuticals-14-00928.pdf
View BVdb publication page



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: rs77834169
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 6
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
View BVdb publication page



Two Years of Newborn Screening for Cystic Fibrosis in North Macedonia: First Experience.

Balkan Journal Of Medical Genetics : Bjmg
Fustik, S S; Anastasovska, V V; Plaseska-Karanfilska, D D; Stamatova, A A; Spirevska, L L; Pesevska, M M; Terzikj, M M; Vujovic, M M
Publication Date: 2021-06

Variant appearance in text: CFTR: R117C
PubMed Link: 34447658
Variant Present in the following documents:
  • Main text
  • bjmg-24-041.pdf
View BVdb publication page



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: R117C
PubMed Link: 34201249
Variant Present in the following documents:
  • Main text
  • ijms-22-06193.pdf
View BVdb publication page



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: 349C>T; Arg117Cys
PubMed Link: 34196078
Variant Present in the following documents:
  • HUMU-42-1165-s002.xlsx, sheet 1
View BVdb publication page



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: 349C>T; Arg117Cys; rs77834169
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



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: R117C
PubMed Link: 33922413
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Diagnosis of Cystic Fibrosis in Adult Age. Data from the Italian Registry.

Diagnostics (Basel, Switzerland)
Padoan, Rita R; Quattrucci, Serena S; Amato, Annalisa A; Carnovale, Vincenzo V; Salvatore, Donatello D; Salvatore, Marco M; Campagna, Giuseppe G
Publication Date: 2021-02-16

Variant appearance in text: CFTR: R117C
PubMed Link: 33669477
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 349C>T; rs77834169
PubMed Link: 33600428
Variant Present in the following documents:
  • pgen.1009323.s003.xlsx, sheet 1
View BVdb publication page



Current Status of Genetic Diagnosis Laboratories and Frequency of Genetic Variants Associated with Cystic Fibrosis through a Newborn-Screening Program in Turkey.

Genes
Bozdogan, Sevcan Tug ST; Mujde, Cem C; Boga, Ibrahim I; Sonmezler, Ozge O; Hanta, Abdullah A; Rencuzogullari, Cagla C; Ozcan, Dilek D; Altintas, Derya Ufuk DU; Bisgin, Atil A
Publication Date: 2021-01-31

Variant appearance in text: CFTR: R117C
PubMed Link: 33572515
Variant Present in the following documents:
  • Main text
  • genes-12-00206.pdf
View BVdb publication page



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: R117C
PubMed Link: 33282281
Variant Present in the following documents:
  • Main text
  • mrm-15-1-690.pdf
View BVdb publication page



Performance of a Three-Tier (IRT-DNA-IRT) Cystic Fibrosis Screening Algorithm in British Columbia.

International Journal Of Neonatal Screening
Sinclair, Graham G; McMahon, Vanessa V; Schellenberg, Amy A; Nelson, Tanya N TN; Chilvers, Mark M; Vallance, Hilary H
Publication Date: 2020-06

Variant appearance in text: CFTR: R117C
PubMed Link: 33073036
Variant Present in the following documents:
  • IJNS-06-00046-s001.xlsx, sheet 1
View BVdb publication page



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: R117C
PubMed Link: 32934006
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Sperm retrieval and intracytoplasmic sperm injection outcomes in men with cystic fibrosis disease versus congenital bilateral absence of the vas deferens.

Asian Journal Of Andrology
McBride, J Abram JA; Kohn, Taylor P TP; Mazur, Daniel J DJ; Lipshultz, Larry I LI; Coward, R Matthew RM
Publication Date: 2021

Variant appearance in text: CFTR: r117c
PubMed Link: 32930103
Variant Present in the following documents:
  • Main text
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: CFTR: R117C
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Molecular Diagnosis and Genetic Counseling of Cystic Fibrosis and Related Disorders: New Challenges.

Genes
Bienvenu, Thierry T; Lopez, Maureen M; Girodon, Emmanuelle E
Publication Date: 2020-06-04

Variant appearance in text: CFTR: 349C>T; R117C
PubMed Link: 32512765
Variant Present in the following documents:
  • Main text
  • genes-11-00619.pdf
View BVdb publication page



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: R117C
PubMed Link: 32414011
Variant Present in the following documents:
  • Main text
  • genes-11-00546.pdf
View BVdb publication page



Abstracts from the 25th Italian Congress of Cystic Fibrosis and the 15th National Congress of Cystic Fibrosis Italian Society : Assago, Milan. 10 - 12 October 2019.

Italian Journal Of Pediatrics
Publication Date: 2020-04-01

Variant appearance in text: CFTR: R117C
PubMed Link: 32234058
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: R117C
PubMed Link: 32168995
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: R117C
PubMed Link: 32153386
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: R117C
PubMed Link: 32130336
Variant Present in the following documents:
  • Main text
  • 1806-3713-jbpneu-46-02-e20190308.pdf
View BVdb publication page



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: 349C>T; R117C
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page



Prevalence and factors associated with overweight and obesity in adults with cystic fibrosis: A single-center analysis.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society
Harindhanavudhi, Tasma T; Wang, Qi Q; Dunitz, Jordan J; Moran, Antoinette A; Moheet, Amir A
Publication Date: 2020-01

Variant appearance in text: CFTR: R117C
PubMed Link: 31727452
Variant Present in the following documents:
  • Main text
View BVdb publication page



Cystic fibrosis precision therapeutics: Emerging considerations.

Pediatric Pulmonology
Joshi, Disha D; Ehrhardt, Annette A; Hong, Jeong S JS; Sorscher, Eric J EJ
Publication Date: 2019-11

Variant appearance in text: CFTR: R117C
PubMed Link: 31715091
Variant Present in the following documents:
  • Main text
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: CFTR: 349C>T; Arg117Cys; rs77834169
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
View BVdb publication page



Cystic Fibrosis Mutation Spectrum in North Macedonia: A Step Toward Personalized Therapy.

Balkan Journal Of Medical Genetics : Bjmg
Terzic, M M; Jakimovska, M M; Fustik, S S; Jakovska, T T; Sukarova-Stefanovska, E E; Plaseska-Karanfilska, D D
Publication Date: 2019-06

Variant appearance in text: CFTR: R117C
PubMed Link: 31523618
Variant Present in the following documents:
  • Main text
  • bjmg-22-035.pdf
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: CFTR: 349C>T; R117C
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page