Publications:

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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: Q552X

PubMed Link: 37009019

Variant Present in the following documents:

• 00473-2022.SUPPLEMENT.pdf

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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: 1654C>T; Gln552Ter

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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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: 1654C>T; Q552X

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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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: Q552X

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: Q552X

PubMed Link: 34857524

Variant Present in the following documents:

• bmjresp-2021-000998supp001.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: rs76554633

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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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: 1654C>T; Gln552*

PubMed Link: 34196078

Variant Present in the following documents:

• HUMU-42-1165-s002.xlsx, sheet 1

View BVdb publication page

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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: Q552X

PubMed Link: 33073036

Variant Present in the following documents:

• IJNS-06-00046-s001.xlsx, sheet 1

View BVdb publication page

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.

Emc. Pediatria

Noël, S S; Sermet-Gaudelus, I I

Publication Date: 2020-03

Variant appearance in text: CFTR: 1654C>T

PubMed Link: 32288518

Variant Present in the following documents:

• main.pdf

View BVdb publication page

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Novel, rare and common pathogenic variants in the CFTR gene screened by high-throughput sequencing technology and predicted by in silico tools.

Scientific Reports

Pereira, Stéphanie Villa-Nova SV; Ribeiro, José Dirceu JD; Ribeiro, Antônio Fernando AF; Bertuzzo, Carmen Sílvia CS; Marson, Fernando Augusto Lima FAL

Publication Date: 2019-04-17

Variant appearance in text: CFTR: 1654C>T; Q552*; rs76554633

PubMed Link: 30996306

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42404.pdf

View BVdb publication page

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Choline Supplementation in Cystic Fibrosis-The Metabolic and Clinical Impact.

Nutrients

Bernhard, Wolfgang W; Lange, Robert R; Graepler-Mainka, Ute U; Engel, Corinna C; Machann, Jürgen J; Hund, Verena V; Shunova, Anna A; Hector, Andreas A; Riethmüller, Joachim J

Publication Date: 2019-03-18

Variant appearance in text: CFTR: Q552X

PubMed Link: 30889905

Variant Present in the following documents:

• Main text
• nutrients-11-00656.pdf

View BVdb publication page

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The population genetics of human disease: The case of recessive, lethal mutations.

Plos Genetics

Amorim, Carlos Eduardo G CEG; Gao, Ziyue Z; Baker, Zachary Z; Diesel, José Francisco JF; Simons, Yuval B YB; Haque, Imran S IS; Pickrell, Joseph J; Przeworski, Molly M

Publication Date: 2017-09

Variant appearance in text: CFTR: 1654C>T; Gln552Ter; rs76554633

PubMed Link: 28957316

Variant Present in the following documents:

• pgen.1006915.s002.xlsx, sheet 1

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: CFTR: 1654C>T; Gln552Ter

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.

European Journal Of Human Genetics : Ejhg

Girardet, Anne A; Viart, Victoria V; Plaza, Stéphanie S; Daina, Gemma G; De Rycke, Martine M; Des Georges, Marie M; Fiorentino, Francesco F; Harton, Gary G; Ishmukhametova, Aliya A; Navarro, Joaquima J; Raynal, Caroline C; Renwick, Pamela P; Saguet, Florielle F; Schwarz, Martin M; SenGupta, Sioban S; Tzetis, Maria M; Roux, Anne-Françoise AF; Claustres, Mireille M

Publication Date: 2016-04

Variant appearance in text: CFTR: 1654C>T; Gln552*

PubMed Link: 26014425

Variant Present in the following documents:

• Main text
• ejhg201599a.pdf

View BVdb publication page

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A Genotypic-Oriented View of CFTR Genetics Highlights Specific Mutational Patterns Underlying Clinical Macrocategories of Cystic Fibrosis.

Molecular Medicine (Cambridge, Mass.)

Lucarelli, Marco M; Bruno, Sabina Maria SM; Pierandrei, Silvia S; Ferraguti, Giampiero G; Stamato, Antonella A; Narzi, Fabiana F; Amato, Annalisa A; Cimino, Giuseppe G; Bertasi, Serenella S; Quattrucci, Serena S; Strom, Roberto R

Publication Date: 2015-04-21

Variant appearance in text: CFTR: 1654C>T; Q552X

PubMed Link: 25910067

Variant Present in the following documents:

• Main text

View BVdb publication page

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Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Baker, Mei W MW; Atkins, Anne E AE; Cordovado, Suzanne K SK; Hendrix, Miyono M; Earley, Marie C MC; Farrell, Philip M PM

Publication Date: 2016-03

Variant appearance in text: CFTR: 1654C>T; Q552X

PubMed Link: 25674778

Variant Present in the following documents:

• Main text

View BVdb publication page

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Analysis of cystic fibrosis gene mutations in children with cystic fibrosis and in 964 infertile couples within the region of Basilicata, Italy: a research study.

Journal Of Medical Case Reports

Dell'Edera, Domenico D; Benedetto, Michele M; Gadaleta, Gemma G; Carone, Domenico D; Salvatore, Donatello D; Angione, Antonella A; Gallo, Massimiliano M; Milo, Michele M; Pisaturo, Maria Laura ML; Di Pierro, Giuseppe G; Mazzone, Eleonora E; Epifania, Annunziata Anna AA

Publication Date: 2014-10-10

Variant appearance in text: CFTR: Q552X

PubMed Link: 25304080

Variant Present in the following documents:

• Main text
• 1752-1947-8-339.pdf

View BVdb publication page

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The tumor necrosis factor α (-308 A/G) polymorphism is associated with cystic fibrosis in Mexican patients.

Plos One

Sanchez-Dominguez, Celia N CN; Reyes-Lopez, Miguel A MA; Bustamante, Adriana A; Cerda-Flores, Ricardo M RM; Villalobos-Torres, Maria Del C Mdel C; Gallardo-Blanco, Hugo L HL; Rojas-Martinez, Augusto A; Martinez-Rodriguez, Herminia G HG; Barrera-Saldaña, Hugo A HA; Ortiz-Lopez, Rocio R

Publication Date: 2014

Variant appearance in text: CFTR: Q552X

PubMed Link: 24603877

Variant Present in the following documents:

• Main text

View BVdb publication page

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CFTR mutations spectrum and the efficiency of molecular diagnostics in Polish cystic fibrosis patients.

Plos One

Ziętkiewicz, Ewa E; Rutkiewicz, Ewa E; Pogorzelski, Andrzej A; Klimek, Barbara B; Voelkel, Katarzyna K; Witt, Michał M

Publication Date: 2014

Variant appearance in text: CFTR: 1654C>T; Q552X

PubMed Link: 24586523

Variant Present in the following documents:

• Main text

View BVdb publication page

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Impact of heterozygote CFTR mutations in COPD patients with chronic bronchitis.

Respiratory Research

Raju, S Vamsee SV; Tate, Jody H JH; Peacock, Sandra K G SK; Fang, Ping P; Oster, Robert A RA; Dransfield, Mark T MT; Rowe, Steven M SM

Publication Date: 2014-02-11

Variant appearance in text: CFTR: Q552X

PubMed Link: 24517344

Variant Present in the following documents:

• 1465-9921-15-18.pdf

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: rs76554633

PubMed Link: 23974870

Variant Present in the following documents:

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

View BVdb publication page

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An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Lazarin, Gabriel A GA; Haque, Imran S IS; Nazareth, Shivani S; Iori, Kevin K; Patterson, A Scott AS; Jacobson, Jessica L JL; Marshall, John R JR; Seltzer, William K WK; Patrizio, Pasquale P; Evans, Eric A EA; Srinivasan, Balaji S BS

Publication Date: 2013-03

Variant appearance in text: CFTR: Q552X

PubMed Link: 22975760

Variant Present in the following documents:

• gim2012114x1.pdf

View BVdb publication page

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Improving test properties for neonatal cystic fibrosis screening in the Netherlands before the nationwide start by May 1st 2011.

Journal Of Inherited Metabolic Disease

Cornel, Martina C MC; Gille, Johan J P JJ; Loeber, J Gerard JG; Vernooij-van Langen, Annette M M AM; Dankert-Roelse, Jeannette J; Bolhuis, Piet A PA

Publication Date: 2012-07

Variant appearance in text: CFTR: Q552X

PubMed Link: 22302635

Variant Present in the following documents:

• Main text

View BVdb publication page

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The K+ channel opener 1-EBIO potentiates residual function of mutant CFTR in rectal biopsies from cystic fibrosis patients.

Plos One

Roth, Eva K EK; Hirtz, Stephanie S; Duerr, Julia J; Wenning, Daniel D; Eichler, Irmgard I; Seydewitz, Hans H HH; Amaral, Margarida D MD; Mall, Marcus A MA

Publication Date: 2011

Variant appearance in text: CFTR: Q552X

PubMed Link: 21909392

Variant Present in the following documents:

• Main text

View BVdb publication page

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Defective CFTR expression and function are detectable in blood monocytes: development of a new blood test for cystic fibrosis.

Plos One

Sorio, Claudio C; Buffelli, Mario M; Angiari, Chiara C; Ettorre, Michele M; Johansson, Jan J; Vezzalini, Marzia M; Viviani, Laura L; Ricciardi, Mario M; Verzè, Genny G; Assael, Baroukh Maurice BM; Melotti, Paola P

Publication Date: 2011

Variant appearance in text: CFTR: Q552X

PubMed Link: 21811577

Variant Present in the following documents:

• Main text
• pone.0022212.pdf

View BVdb publication page

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Mutations that permit residual CFTR function delay acquisition of multiple respiratory pathogens in CF patients.

Respiratory Research

Green, Deanna M DM; McDougal, Kathryn E KE; Blackman, Scott M SM; Sosnay, Patrick R PR; Henderson, Lindsay B LB; Naughton, Kathleen M KM; Collaco, J Michael JM; Cutting, Garry R GR

Publication Date: 2010-10-08

Variant appearance in text: CFTR: Q552X

PubMed Link: 20932301

Variant Present in the following documents:

• Main text
• 1465-9921-11-140.pdf

View BVdb publication page

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The suitability of matrix assisted laser desorption/ionization time of flight mass spectrometry in a laboratory developed test using cystic fibrosis carrier screening as a model.

The Journal Of Molecular Diagnostics : Jmd

Farkas, Daniel H DH; Miltgen, Nicholas E NE; Stoerker, Jay J; van den Boom, Dirk D; Highsmith, W Edward WE; Cagasan, Lesley L; McCullough, Ron R; Mueller, Reinhold R; Tang, Lin L; Tynan, John J; Tate, Courtney C; Bombard, Allan A

Publication Date: 2010-09

Variant appearance in text: CFTR: 1654C>T; Q552X

PubMed Link: 20616359

Variant Present in the following documents:

• Main text

View BVdb publication page

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Preliminary evidence for cell membrane amelioration in children with cystic fibrosis by 5-MTHF and vitamin B12 supplementation: a single arm trial.

Plos One

Scambi, Cinzia C; De Franceschi, Lucia L; Guarini, Patrizia P; Poli, Fabio F; Siciliano, Angela A; Pattini, Patrizia P; Biondani, Andrea A; La Verde, Valentina V; Bortolami, Oscar O; Turrini, Francesco F; Carta, Franco F; D'Orazio, Ciro C; Assael, Baroukh M BM; Faccini, Giovanni G; Bambara, Lisa M LM

Publication Date: 2009

Variant appearance in text: CFTR: Q552X

PubMed Link: 19277125

Variant Present in the following documents:

• Main text
• pone.0004782.pdf

View BVdb publication page

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Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

Journal Of Cystic Fibrosis : Official Journal Of The European Cystic Fibrosis Society

Castellani, C C; Cuppens, H H; Macek, M M; Cassiman, J J JJ; Kerem, E E; Durie, P P; Tullis, E E; Assael, B M BM; Bombieri, C C; Brown, A A; Casals, T T; Claustres, M M; Cutting, G R GR; Dequeker, E E; Dodge, J J; Doull, I I; Farrell, P P; Ferec, C C; Girodon, E E; Johannesson, M M; Kerem, B B; Knowles, M M; Munck, A A; Pignatti, P F PF; Radojkovic, D D; Rizzotti, P P; Schwarz, M M; Stuhrmann, M M; Tzetis, M M; Zielenski, J J; Elborn, J S JS

Publication Date: 2008-05

Variant appearance in text: CFTR: Q552X

PubMed Link: 18456578

Variant Present in the following documents:

• Main text

View BVdb publication page

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Pancreatic phenotype in infants with cystic fibrosis identified by mutation screening.

Archives Of Disease In Childhood

Cipolli, Marco M; Castellani, Carlo C; Wilcken, Bridget B; Massie, John J; McKay, Karen K; Gruca, Margie M; Tamanini, Anna A; Assael, Maurice Baroukh MB; Gaskin, Kevin K

Publication Date: 2007-10

Variant appearance in text: CFTR: Q552X

PubMed Link: 17449517

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.

The Journal Of Molecular Diagnostics : Jmd

Schrijver, Iris I; Oitmaa, Eneli E; Metspalu, Andres A; Gardner, Phyllis P

Publication Date: 2005-08

Variant appearance in text: CFTR: Q552X

PubMed Link: 16049310

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular analysis using DHPLC of cystic fibrosis: increase of the mutation detection rate among the affected population in Central Italy.

Bmc Medical Genetics

D'Apice, Maria Rosaria MR; Gambardella, Stefano S; Bengala, Mario M; Russo, Silvia S; Nardone, Anna Maria AM; Lucidi, Vincenzina V; Sangiuolo, Federica F; Novelli, Giuseppe G

Publication Date: 2004-04-14

Variant appearance in text: CFTR: Q552X

PubMed Link: 15084222

Variant Present in the following documents:

• Main text
• 1471-2350-5-8.pdf

View BVdb publication page

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Molecular consequences of cystic fibrosis transmembrane regulator (CFTR) gene mutations in the exocrine pancreas.

Gut

Ahmed, N N; Corey, M M; Forstner, G G; Zielenski, J J; Tsui, L-C LC; Ellis, L L; Tullis, E E; Durie, P P

Publication Date: 2003-08

Variant appearance in text: CFTR: Q552X

PubMed Link: 12865275

Variant Present in the following documents:

• Main text

View BVdb publication page

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Correction of G551D-CFTR transport defect in epithelial monolayers by genistein but not by CPX or MPB-07.

British Journal Of Pharmacology

Zegarra-Moran, Olga O; Romio, Leila L; Folli, Chiara C; Caci, Emanuela E; Becq, Frederic F; Vierfond, Jean-Michel JM; Mettey, Yvette Y; Cabrini, Giulio G; Fanen, Pascale P; Galietta, Luis J V LJ

Publication Date: 2002-10

Variant appearance in text: CFTR: Q552X

PubMed Link: 12359632

Variant Present in the following documents:

• Main text

View BVdb publication page

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Effect of genistein on native epithelial tissue from normal individuals and CF patients and on ion channels expressed in Xenopus oocytes.

British Journal Of Pharmacology

Mall, M M; Wissner, A A; Seydewitz, H H HH; Hübner, M M; Kuehr, J J; Brandis, M M; Greger, R R; Kunzelmann, K K

Publication Date: 2000-08

Variant appearance in text: CFTR: Q552X

PubMed Link: 10952679

Variant Present in the following documents:

• Main text

View BVdb publication page

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