CFTR c.1865G>A ;(p.G622D)

Variant ID: 7-117232086-G-A

NM_000492.3(CFTR):c.1865G>A;(p.G622D)

This variant was identified in 38 publications

View GRCh38 version.




Publications:


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: 1865G>A; Gly622Asp
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: G622D
PubMed Link: 36670555
Variant Present in the following documents:
  • children-10-00004.pdf
View BVdb publication page



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: 1865G>A; G622D; rs121908759
PubMed Link: 35665681
Variant Present in the following documents:
  • mmc26.xlsx, sheet 1
View BVdb publication page



Translational Research in Cystic Fibrosis: From Bench to Beside.

Frontiers In Pediatrics
Garcia, Laura de Castro E LCE; Petry, Lucas Montiel LM; Germani, Pedro Augusto Van Der Sand PAVS; Xavier, Luiza Fernandes LF; de Barros, Paula Barros PB; Meneses, Amanda da Silva ADS; Prestes, Laura Menestrino LM; Bittencourt, Luana Braga LB; Pieta, Marina Puerari MP; Friedrich, Frederico F; Pinto, Leonardo Araújo LA
Publication Date: 2022

Variant appearance in text: CFTR: G622D
PubMed Link: 35652053
Variant Present in the following documents:
  • Main text
  • fped-10-881470.pdf
View BVdb publication page



Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Nature Communications
Cong, Pei-Kuan PK; Bai, Wei-Yang WY; Li, Jin-Chen JC; Yang, Meng-Yuan MY; Khederzadeh, Saber S; Gai, Si-Rui SR; Li, Nan N; Liu, Yu-Heng YH; Yu, Shi-Hui SH; Zhao, Wei-Wei WW; Liu, Jun-Quan JQ; Sun, Yi Y; Zhu, Xiao-Wei XW; Zhao, Pian-Pian PP; Xia, Jiang-Wei JW; Guan, Peng-Lin PL; Qian, Yu Y; Tao, Jian-Guo JG; Xu, Lin L; Tian, Geng G; Wang, Ping-Yu PY; Xie, Shu-Yang SY; Qiu, Mo-Chang MC; Liu, Ke-Qi KQ; Tang, Bei-Sha BS; Zheng, Hou-Feng HF
Publication Date: 2022-05-26

Variant appearance in text: CFTR: 1865G>A; G622D; rs121908759
PubMed Link: 35618720
Variant Present in the following documents:
  • 41467_2022_30526_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



The Genetic Landscape of Ocular Adnexa MALT Lymphoma Reveals Frequent Aberrations in NFAT and MEF2B Signaling Pathways.

Cancer Research Communications
Magistri, Marco M; Happ, Lanie E LE; Ramdial, Jeremy J; Lu, XiaoQing X; Stathias, Vasileios V; Kunkalla, Kranthi K; Agarwal, Nitin N; Jiang, Xiaoyu X; Schürer, Stephan C SC; Dubovy, Sander R SR; Chapman, Jennifer R JR; Vega, Francisco F; Dave, Sandeep S; Lossos, Izidore S IS
Publication Date: 2021-10

Variant appearance in text: CFTR: G622D
PubMed Link: 35528192
Variant Present in the following documents:
  • crc-21-0022-s03.xlsx, sheet 1
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: 1865G>A; Gly622Asp; rs121908759
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



Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.

Jama Network Open
Yin, Lingdi L; Wei, Jishu J; Lu, Zipeng Z; Huang, Shimeng S; Gao, Hao H; Chen, Jianmin J; Guo, Feng F; Tu, Min M; Xiao, Bin B; Xi, Chunhua C; Zhang, Kai K; Li, Qiang Q; Wu, Junli J; Gao, Wentao W; Jiang, Kuirong K; Yu, Jun J; Miao, Yi Y
Publication Date: 2022-02-01

Variant appearance in text: CFTR: 1865G>A; Gly622Asp
PubMed Link: 35171259
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.

Jama Network Open
Yin, Lingdi L; Wei, Jishu J; Lu, Zipeng Z; Huang, Shimeng S; Gao, Hao H; Chen, Jianmin J; Guo, Feng F; Tu, Min M; Xiao, Bin B; Xi, Chunhua C; Zhang, Kai K; Li, Qiang Q; Wu, Junli J; Gao, Wentao W; Jiang, Kuirong K; Yu, Jun J; Miao, Yi Y
Publication Date: 2022-02-01

Variant appearance in text: CFTR: 1865G>A; Gly622Asp
PubMed Link: 35171259
Variant Present in the following documents:
  • Main text
View BVdb publication page



Revealing Chronic Granulomatous Disease in a Patient With Williams-Beuren Syndrome Using Whole Exome Sequencing.

Frontiers In Immunology
Ripen, Adiratna Mat AM; Chiow, Mei Yee MY; Rama Rao, Prakash Rao PR; Mohamad, Saharuddin Bin SB
Publication Date: 2021

Variant appearance in text: CFTR: 1865G>A; G622D; rs121908759
PubMed Link: 34804071
Variant Present in the following documents:
  • Main text
  • fimmu-12-778133.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: rs121908759
PubMed Link: 34740355
Variant Present in the following documents:
  • 12920_2021_1111_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive analysis of mutations and clonal evolution patterns in a cohort of patients with cytogenetically normal acute myeloid leukemia.

Molecular Cytogenetics
Mat Yusoff, Yuslina Y; Ahid, Fadly F; Abu Seman, Zahidah Z; Abdullah, Julia J; Kamaluddin, Nor Rizan NR; Esa, Ezalia E; Zakaria, Zubaidah Z
Publication Date: 2021-09-24

Variant appearance in text: CFTR: 1865G>A; G622D
PubMed Link: 34560908
Variant Present in the following documents:
  • Main text
  • 13039_2021_Article_561.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: rs121908759
PubMed Link: 34541464
Variant Present in the following documents:
  • cdr-3-959-SupplementaryMaterials.xlsx, sheet 4
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: 1865G>A; Gly622Asp; rs121908759
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
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: rs121908759
PubMed Link: 33600428
Variant Present in the following documents:
  • pgen.1009323.s010.xlsx, sheet 1
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: CFTR: G622D
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Westemeyer, Maggie M; Saucier, Jennifer J; Wallace, Jody J; Prins, Sarah A SA; Shetty, Aparna A; Malhotra, Meenakshi M; Demko, Zachary P ZP; Eng, Christine M CM; Weckstein, Louis L; Boostanfar, Robert R; Rabinowitz, Matthew M; Benn, Peter P; Keen-Kim, Dianne D; Billings, Paul P
Publication Date: 2020-08

Variant appearance in text: CFTR: 1865G>A; G622D
PubMed Link: 32366966
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 1865G>A; rs121908759
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



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: G622D
PubMed Link: 32256364
Variant Present in the following documents:
  • Main text
  • fphar-11-00295.pdf
View BVdb publication page



The GenomeAsia 100K Project enables genetic discoveries across Asia.

Nature
,
Publication Date: 2019-12

Variant appearance in text: CFTR: G622D
PubMed Link: 31802016
Variant Present in the following documents:
  • 41586_2019_1793_MOESM3_ESM.xlsx, sheet 13
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: 1865G>A; rs121908759
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
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: 1865G>A; G622D
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: CFTR: 1865G>A; Gly622Asp
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators.

Jci Insight
Han, Sangwoo T ST; Rab, Andras A; Pellicore, Matthew J MJ; Davis, Emily F EF; McCague, Allison F AF; Evans, Taylor A TA; Joynt, Anya T AT; Lu, Zhongzhou Z; Cai, Zhiwei Z; Raraigh, Karen S KS; Hong, Jeong S JS; Sheppard, David N DN; Sorscher, Eric J EJ; Cutting, Garry R GR
Publication Date: 2018-07-26

Variant appearance in text: CFTR: G622D
PubMed Link: 30046002
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.

American Journal Of Human Genetics
Raraigh, Karen S KS; Han, Sangwoo T ST; Davis, Emily E; Evans, Taylor A TA; Pellicore, Matthew J MJ; McCague, Allison F AF; Joynt, Anya T AT; Lu, Zhongzhou Z; Atalar, Melis M; Sharma, Neeraj N; Sheridan, Molly B MB; Sosnay, Patrick R PR; Cutting, Garry R GR
Publication Date: 2018-06-07

Variant appearance in text: CFTR: 1865G>A; Gly622Asp
PubMed Link: 29805046
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs121908759
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



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: 1865G>A; Gly622Asp; rs121908759
PubMed Link: 28957316
Variant Present in the following documents:
  • pgen.1006915.s002.xlsx, sheet 1
View BVdb publication page



Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: CFTR: G622D
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s6.xlsx, sheet 1
View BVdb publication page



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: G622D
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Missense variants in CFTR nucleotide-binding domains predict quantitative phenotypes associated with cystic fibrosis disease severity.

Human Molecular Genetics
Masica, David L DL; Sosnay, Patrick R PR; Raraigh, Karen S KS; Cutting, Garry R GR; Karchin, Rachel R
Publication Date: 2015-04-01

Variant appearance in text: CFTR: G622D
PubMed Link: 25489051
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetic landscape of high-risk neuroblastoma.

Nature Genetics
Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM
Publication Date: 2013-03

Variant appearance in text: CFTR: 1865G>A; G622D; rs121908759
PubMed Link: 23334666
Variant Present in the following documents:
  • NIHMS474900-supplement-8.xlsx, sheet 2
View BVdb publication page



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: G622D
PubMed Link: 22975760
Variant Present in the following documents:
  • gim2012114x1.pdf
View BVdb publication page



Conformational changes relevant to channel activity and folding within the first nucleotide binding domain of the cystic fibrosis transmembrane conductance regulator.

The Journal Of Biological Chemistry
Hudson, Rhea P RP; Chong, P Andrew PA; Protasevich, Irina I II; Vernon, Robert R; Noy, Efrat E; Bihler, Hermann H; An, Jian Li JL; Kalid, Ori O; Sela-Culang, Inbal I; Mense, Martin M; Senderowitz, Hanoch H; Brouillette, Christie G CG; Forman-Kay, Julie D JD
Publication Date: 2012-08-17

Variant appearance in text: CFTR: G622D
PubMed Link: 22722932
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: G622D
PubMed Link: 20932301
Variant Present in the following documents:
  • Main text
  • 1465-9921-11-140.pdf
View BVdb publication page



Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases.

Human Mutation
Scott, Stuart A SA; Edelmann, Lisa L; Liu, Liu L; Luo, Minjie M; Desnick, Robert J RJ; Kornreich, Ruth R
Publication Date: 2010-11

Variant appearance in text: CFTR: G622D
PubMed Link: 20672374
Variant Present in the following documents:
  • Main text
View BVdb publication page



C terminus of nucleotide binding domain 1 contains critical features for cystic fibrosis transmembrane conductance regulator trafficking and activation.

The Journal Of Biological Chemistry
Billet, Arnaud A; Melin, Patricia P; Jollivet, Mathilde M; Mornon, Jean-Paul JP; Callebaut, Isabelle I; Becq, Frédéric F
Publication Date: 2010-07-16

Variant appearance in text: CFTR: G622D
PubMed Link: 20435887
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects.

Expert Reviews In Molecular Medicine
Sandonà, Dorianna D; Betto, Romeo R
Publication Date: 2009-09-28

Variant appearance in text: CFTR: G622D
PubMed Link: 19781108
Variant Present in the following documents:
  • Main text
  • S1462399409001203a.pdf
View BVdb publication page



Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.

European Journal Of Human Genetics : Ejhg
Dequeker, Els E; Stuhrmann, Manfred M; Morris, Michael A MA; Casals, Teresa T; Castellani, Carlo C; Claustres, Mireille M; Cuppens, Harry H; des Georges, Marie M; Ferec, Claude C; Macek, Milan M; Pignatti, Pier-Franco PF; Scheffer, Hans H; Schwartz, Marianne M; Witt, Michal M; Schwarz, Martin M; Girodon, Emmanuelle E
Publication Date: 2009-01

Variant appearance in text: CFTR: G622D
PubMed Link: 18685558
Variant Present in the following documents:
  • Main text
View BVdb publication page