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: 1505T>C; Ile502Thr

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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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: I502T

PubMed Link: 35652053

Variant Present in the following documents:

• Main text
• fped-10-881470.pdf

View BVdb publication page

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12th ISNS European Regional Meeting Oral and Poster Abstracts.

International Journal Of Neonatal Screening

Hall, Kate K

Publication Date: 2021-10-29

Variant appearance in text: CFTR: I502T

PubMed Link: 34842605

Variant Present in the following documents:

• IJNS-07-00071.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: rs397508222

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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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: rs397508222

PubMed Link: 34541464

Variant Present in the following documents:

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

View BVdb publication page

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Cystic fibrosis in South Africa: spectrum of disease and determinants of outcome.

Erj Open Research

Zampoli, Marco M; Verstraete, Janine J; Frauendorf, Marlize M; Kassanjee, Reshma R; Workman, Lesley L; Morrow, Brenda M BM; Zar, Heather J HJ

Publication Date: 2021-07

Variant appearance in text: CFTR: 1505T>C; Ile502Thr

PubMed Link: 34350279

Variant Present in the following documents:

• 00856-2020.supplement.pdf

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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: 1505T>C; Ile502Thr; rs397508222

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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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: I502T

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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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: rs397508222

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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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: I502T

PubMed Link: 25489051

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: I502T

PubMed Link: 25304080

Variant Present in the following documents:

• Main text
• 1752-1947-8-339.pdf

View BVdb publication page

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Prenatal screening of Cystic Fibrosis: a single centre experience.

Journal Of Prenatal Medicine

Bizzoco, Domenico D; Mesoraca, Alvaro A; Cima, Antonella A; Sarti, Monica M; Di Giacomo, Gianluca G; Scerra, Giovanna G; Barone, Maria Antonietta MA; Di Natale, Manuela M; Gabrielli, Ivan I; Tamburino, Caterina C; Scargiali, Claudia C; Ernandez, Cristina C; D'Aleo, Maria Pia MP; Todini, Michele M; Pompili, Rita R; Mobili, Luisa L; Mangiafico, Lucia L; Carcioppolo, Ornella O; Coco, Claudio C; Cignini, Pietro P; D'Emidio, Laura L; Girgenti, Alessandra A; Brizzi, Cristiana C; Cavaliere, Alessandro A; Giorlandino, Claudio C

Publication Date: 2008-01

Variant appearance in text: CFTR: I502T

PubMed Link: 22439019

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genotype-phenotype correlation in cystic fibrosis patients bearing [H939R;H949L] allele.

Genetics And Molecular Biology

Polizzi, Angela A; Tesse, Riccardina R; Santostasi, Teresa T; Diana, Anna A; Manca, Antonio A; Logrillo, Vito Paolo VP; Cazzato, Maria Domenica MD; Pantaleo, Maria Giuseppa MG; Armenio, Lucio L

Publication Date: 2011-07

Variant appearance in text: CFTR: I502T

PubMed Link: 21931512

Variant Present in the following documents:

• Main text
• gmb-34-3-416.pdf

View BVdb publication page

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