Publications:

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Organoids: The current status and biomedical applications.

Medcomm

Yang, Siqi S; Hu, Haijie H; Kung, Hengchung H; Zou, Ruiqi R; Dai, Yushi Y; Hu, Yafei Y; Wang, Tiantian T; Lv, Tianrun T; Yu, Jun J; Li, Fuyu F

Publication Date: 2023-06

Variant appearance in text: CFTR: R553X

PubMed Link: 37215622

Variant Present in the following documents:

• Main text
• MCO2-4-e274.pdf

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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: 1657C>T; Arg553Ter; rs74597325

PubMed Link: 37175647

Variant Present in the following documents:

• ijms-24-07940.pdf

View BVdb publication page

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Post-approval studies with the CFTR modulators Elexacaftor-Tezacaftor-Ivacaftor.

Frontiers In Pharmacology

Tümmler, Burkhard B

Publication Date: 2023

Variant appearance in text: CFTR: Arg553Ter

PubMed Link: 37025483

Variant Present in the following documents:

• Main text
• fphar-14-1158207.pdf

View BVdb publication page

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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: R553X

PubMed Link: 37009019

Variant Present in the following documents:

• 00473-2022.SUPPLEMENT.pdf

View BVdb publication page

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The Association between CFTR Gene Mutation Heterozygosity and Asthma Development: A Systematic Review.

Journal Of Clinical Medicine

Koumpagioti, Despoina D; Moriki, Dafni D; Boutopoulou, Barbara B; Matziou, Vasiliki V; Loukou, Ioanna I; Priftis, Kostas N KN; Douros, Konstantinos K

Publication Date: 2023-03-21

Variant appearance in text: CFTR: R553X

PubMed Link: 36983403

Variant Present in the following documents:

• Main text
• jcm-12-02403.pdf

View BVdb publication page

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Outcomes of children with cystic fibrosis screen positive, inconclusive diagnosis/CFTR related metabolic syndrome.

Frontiers In Pediatrics

Gunnett, Mohini A MA; Baker, Elizabeth E; Mims, Cathy C; Self, Staci T ST; Gutierrez, Hector H HH; Guimbellot, Jennifer S JS

Publication Date: 2023

Variant appearance in text: CFTR: R553X

PubMed Link: 36969284

Variant Present in the following documents:

• Main text
• fped-11-1127659.pdf

View BVdb publication page

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Beyond Mendelian Inheritance: Genetic Buffering and Phenotype Variability.

Phenomics (Cham, Switzerland)

Rossi, Andrea A; Kontarakis, Zacharias Z

Publication Date: 2022-04

Variant appearance in text: CFTR: R553X

PubMed Link: 36939776

Variant Present in the following documents:

• Main text
• 43657_2021_Article_30.pdf

View BVdb publication page

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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: 1657C>T; Arg553Ter

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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Current and Future Therapeutic Approaches of Exocrine Pancreatic Insufficiency in Children with Cystic Fibrosis in the Era of Personalized Medicine.

Pharmaceutics

Ritivoiu, Mirela-Elena ME; Drăgoi, Cristina Manuela CM; Matei, Dumitru D; Stan, Iustina Violeta IV; Nicolae, Alina Crenguţa AC; Craiu, Mihai M; Dumitrescu, Ion-Bogdan IB; Ciolpan, Alina Angelica AA

Publication Date: 2023-01-03

Variant appearance in text: CFTR: R553x

PubMed Link: 36678791

Variant Present in the following documents:

• Main text
• pharmaceutics-15-00162.pdf

View BVdb publication page

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Cystic Fibrosis Patients with F508del/Minimal Function Genotype: Laboratory and Nutritional Evaluations after One Year of Elexacaftor/Tezacaftor/Ivacaftor Treatment.

Journal Of Clinical Medicine

Carnovale, Vincenzo V; Scialò, Filippo F; Gelzo, Monica M; Iacotucci, Paola P; Amato, Felice F; Zarrilli, Federica F; Celardo, Assunta A; Castaldo, Giuseppe G; Corso, Gaetano G

Publication Date: 2022-11-22

Variant appearance in text: CFTR: R553X

PubMed Link: 36498475

Variant Present in the following documents:

• jcm-11-06900.pdf

View BVdb publication page

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Drug treatment of cystic fibrosis.

Australian Prescriber

Bruorton, Matthew M; Goddard, Thomas T

Publication Date: 2022-10

Variant appearance in text: CFTR: R553X

PubMed Link: 36382177

Variant Present in the following documents:

• Main text
• austprescr-45-171.pdf

View BVdb publication page

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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: 1657C>T; Arg553X

PubMed Link: 35858753

Variant Present in the following documents:

• Main text
• jmg-2022-108501supp001.pdf
• jmg-2022-108501.pdf

View BVdb publication page

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The Exocrine Pancreas in Cystic Fibrosis in the Era of CFTR Modulation: A Mini Review.

Frontiers In Pediatrics

McKay, Isabelle R IR; Ooi, Chee Y CY

Publication Date: 2022

Variant appearance in text: CFTR: R553X

PubMed Link: 35832587

Variant Present in the following documents:

• Main text
• fped-10-914790.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: 1657C>T; R553X

PubMed Link: 35740997

Variant Present in the following documents:

• Main text
• cells-11-01868.pdf

View BVdb publication page

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Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine

Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z

Publication Date: 2022-07

Variant appearance in text: CFTR: 1657C>T; R553X; rs74597325

PubMed Link: 35665681

Variant Present in the following documents:

• mmc26.xlsx, sheet 1

View BVdb publication page

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CFTR mRNAs with nonsense codons are degraded by the SMG6-mediated endonucleolytic decay pathway.

Nature Communications

Sanderlin, Edward J EJ; Keenan, Melissa M MM; Mense, Martin M; Revenko, Alexey S AS; Monia, Brett P BP; Guo, Shuling S; Huang, Lulu L

Publication Date: 2022-04-29

Variant appearance in text: CFTR: R553X

PubMed Link: 35487895

Variant Present in the following documents:

• 41467_2022_29935_MOESM2_ESM.pdf

View BVdb publication page

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Can continuous glucose monitoring predict cystic fibrosis-related diabetes and worse clinical outcome?

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

Zorron, Mariana M; Marson, Fernando Augusto Lima FAL; Morcillo, André Moreno AM; Gonçalves, Aline Cristina AC; El Beck, Mayra de Souza MS; Ribeiro, José Dirceu JD; Ribeiro, Antonio Fernando AF

Publication Date: 2022

Variant appearance in text: CFTR: Arg553Ter

PubMed Link: 35475864

Variant Present in the following documents:

• Main text
• 1806-3756-jbpneu-48-02-e20210307.pdf

View BVdb publication page

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Targeted Gene Insertion for Functional CFTR Restoration in Airway Epithelium.

Frontiers In Genome Editing

Barillà, Cristina C; Suzuki, Shingo S; Rab, Andras A; Sorscher, Eric J EJ; Davis, Brian R BR

Publication Date: 2022

Variant appearance in text: CFTR: R553X

PubMed Link: 35330693

Variant Present in the following documents:

• Main text
• fgeed-04-847645.pdf

View BVdb publication page

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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: 1657C>T; R553X; rs74597325

PubMed Link: 35313924

Variant Present in the following documents:

• 13023_2022_2279_MOESM1_ESM.xls, sheet 1
• 13023_2022_2279_MOESM3_ESM.xls, sheet 1

View BVdb publication page

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Precision Medicine Based on CFTR Genotype for People with Cystic Fibrosis.

Pharmacogenomics And Personalized Medicine

Haq, Iram I; Almulhem, Maryam M; Soars, Simone S; Poulton, David D; Brodlie, Malcolm M

Publication Date: 2022

Variant appearance in text: CFTR: R553X

PubMed Link: 35153502

Variant Present in the following documents:

• Main text
• pgpm-15-91.pdf

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: R553X

PubMed Link: 34945117

Variant Present in the following documents:

• Main text
• jcm-10-05821.pdf

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: R553X

PubMed Link: 34945117

Variant Present in the following documents:

• Main text
• jcm-10-05821.pdf

View BVdb publication page

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Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.

Bmj Open Respiratory Research

Bresnick, Kathryn K; Arteaga-Solis, Emilio E; Millar, Stefanie J SJ; Laird, Glen G; LeCamus, Cecile C

Publication Date: 2021-12

Variant appearance in text: CFTR: R553X

PubMed Link: 34857524

Variant Present in the following documents:

• bmjresp-2021-000998supp001.pdf

View BVdb publication page

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Burden of cystic fibrosis in children <12 years of age prior to the introduction of CFTR modulator therapies.

Bmj Open Respiratory Research

Bresnick, Kathryn K; Arteaga-Solis, Emilio E; Millar, Stefanie J SJ; Laird, Glen G; LeCamus, Cecile C

Publication Date: 2021-12

Variant appearance in text: CFTR: R553X

PubMed Link: 34857524

Variant Present in the following documents:

• bmjresp-2021-000998supp001.pdf

View BVdb publication page

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Comprehensive Analysis of Combinatorial Pharmacological Treatments to Correct Nonsense Mutations in the CFTR Gene.

International Journal Of Molecular Sciences

Venturini, Arianna A; Borrelli, Anna A; Musante, Ilaria I; Scudieri, Paolo P; Capurro, Valeria V; Renda, Mario M; Pedemonte, Nicoletta N; Galietta, Luis J V LJV

Publication Date: 2021-11-04

Variant appearance in text: CFTR: R553X

PubMed Link: 34769402

Variant Present in the following documents:

• Main text

View BVdb publication page

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The determinants of survival among adults with cystic fibrosis-a cohort study.

Journal Of Physiological Anthropology

Durda-Masny, Magdalena M; Goździk-Spychalska, Joanna J; John, Aleksandra A; Czaiński, Wojciech W; Stróżewska, Weronika W; Pawłowska, Natalia N; Wlizło, Jolanta J; Batura-Gabryel, Halina H; Szwed, Anita A

Publication Date: 2021-11-08

Variant appearance in text: CFTR: R553X

PubMed Link: 34749804

Variant Present in the following documents:

• Main text

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: rs74597325

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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Non-tuberculous mycobacteria infection treated with intermittently inhaled high-dose nitric oxide.

Bmj Case Reports

Goldbart, Aviv A; Gatt, Dvir D; Golan Tripto, Inbal I

Publication Date: 2021-10-28

Variant appearance in text: CFTR: 1657C>T

PubMed Link: 34711619

Variant Present in the following documents:

• Main text
• bcr-2021-243979.pdf

View BVdb publication page

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Population pharmacogenomics: an update on ethnogeographic differences and opportunities for precision public health.

Human Genetics

Zhou, Yitian Y; Lauschke, Volker M VM

Publication Date: 2022-06

Variant appearance in text: rs74597325

PubMed Link: 34652573

Variant Present in the following documents:

• 439_2021_2385_MOESM4_ESM.xlsx, sheet 1

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: R553X

PubMed Link: 34577628

Variant Present in the following documents:

• Main text
• pharmaceuticals-14-00928.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: 1657C>T; R553X

PubMed Link: 34557648

Variant Present in the following documents:

• Main text

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: 1657C>T; R553X

PubMed Link: 34557648

Variant Present in the following documents:

• Main text

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: rs74597325

PubMed Link: 34541464

Variant Present in the following documents:

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

View BVdb publication page

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Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Genome Medicine

Wang, Zishan Z; Fan, Xiao X; Shen, Yufeng Y; Pagadala, Meghana S MS; Signer, Rebecca R; Cygan, Kamil J KJ; Fairbrother, William G WG; Carter, Hannah H; Chung, Wendy K WK; Huang, Kuan-Lin KL

Publication Date: 2021-09-09

Variant appearance in text: CFTR: R553*

PubMed Link: 34503567

Variant Present in the following documents:

• 13073_2021_964_MOESM6_ESM.xlsx, sheet 1
• 13073_2021_964_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Ataluren-Promising Therapeutic Premature Termination Codon Readthrough Frontrunner.

Pharmaceuticals (Basel, Switzerland)

Michorowska, Sylwia S

Publication Date: 2021-08-09

Variant appearance in text: CFTR: R553X

PubMed Link: 34451881

Variant Present in the following documents:

• Main text
• pharmaceuticals-14-00785.pdf

View BVdb publication page

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Feedback Signaling between Cholangiopathies, Ductular Reaction, and Non-Alcoholic Fatty Liver Disease.

Cells

Zhou, Tianhao T; Kundu, Debjyoti D; Robles-Linares, Jonathan J; Meadows, Vik V; Sato, Keisaku K; Baiocchi, Leonardo L; Ekser, Burcin B; Glaser, Shannon S; Alpini, Gianfranco G; Francis, Heather H; Kennedy, Lindsey L

Publication Date: 2021-08-12

Variant appearance in text: CFTR: R553X

PubMed Link: 34440841

Variant Present in the following documents:

• cells-10-02072.pdf

View BVdb publication page

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A small molecule that induces translational readthrough of CFTR nonsense mutations by eRF1 depletion.

Nature Communications

Sharma, Jyoti J; Du, Ming M; Wong, Eric E; Mutyam, Venkateshwar V; Li, Yao Y; Chen, Jianguo J; Wangen, Jamie J; Thrasher, Kari K; Fu, Lianwu L; Peng, Ning N; Tang, Liping L; Liu, Kaimao K; Mathew, Bini B; Bostwick, Robert J RJ; Augelli-Szafran, Corinne E CE; Bihler, Hermann H; Liang, Feng F; Mahiou, Jerome J; Saltz, Josef J; Rab, Andras A; Hong, Jeong J; Sorscher, Eric J EJ; Mendenhall, Eric M EM; Coppola, Candice J CJ; Keeling, Kim M KM; Green, Rachel R; Mense, Martin M; Suto, Mark J MJ; Rowe, Steven M SM; Bedwell, David M DM

Publication Date: 2021-07-16

Variant appearance in text: CFTR: R553X

PubMed Link: 34272367

Variant Present in the following documents:

• Main text
• 41467_2021_24575_MOESM3_ESM.pdf
• 41467_2021_24575_MOESM1_ESM.pdf
• 41467_2021_Article_24575.pdf

View BVdb publication page

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Ethnic Differences in the Frequency of CFTR Gene Mutations in Populations of the European and North Caucasian Part of the Russian Federation.

Frontiers In Genetics

Petrova, Nika N; Balinova, Natalia N; Marakhonov, Andrey A; Vasilyeva, Tatyana T; Kashirskaya, Nataliya N; Galkina, Varvara V; Ginter, Evgeniy E; Kutsev, Sergey S; Zinchenko, Rena R

Publication Date: 2021

Variant appearance in text: CFTR: R553X

PubMed Link: 34220950

Variant Present in the following documents:

• Main text
• fgene-12-678374.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: 1657C>T; Arg553*

PubMed Link: 34196078

Variant Present in the following documents:

• HUMU-42-1165-s002.xlsx, sheet 1

View BVdb publication page

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Phagocyte extracellular traps in children with neutrophilic airway inflammation.

Erj Open Research

King, Paul T PT; Dousha, Lovisa L; Clarke, Nadeene N; Schaefer, Jennifer J; Carzino, Rosemary R; Sharma, Roleen R; Wan, Ken L KL; Anantharajah, Aveena A; O'Sullivan, Kim K; Lu, Zhong X ZX; Holdsworth, Stephen R SR; Ranganathan, Sarath S; Bardin, Philip G PG; Armstrong, David S DS

Publication Date: 2021-04

Variant appearance in text: CFTR: R553X

PubMed Link: 34164555

Variant Present in the following documents:

• 00883-2020.SUPPLEMENT.pdf

View BVdb publication page

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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: 1657C>T; Arg553Ter; rs74597325

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Prime editing - an update on the field.

Gene Therapy

Scholefield, Janine J; Harrison, Patrick T PT

Publication Date: 2021-08

Variant appearance in text: CFTR: R553X

PubMed Link: 34031549

Variant Present in the following documents:

• Main text

View BVdb publication page

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