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: 1135G>T; Glu379Ter

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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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: rs397508165

PubMed Link: 34541464

Variant Present in the following documents:

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

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: 1135G>T; Glu379Ter; rs397508165

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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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: E379X

PubMed Link: 31523618

Variant Present in the following documents:

• Main text
• bjmg-22-035.pdf

View BVdb publication page

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Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine

Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A

Publication Date: 2019-06-28

Variant appearance in text: CFTR: E379*

PubMed Link: 31253177

Variant Present in the following documents:

• 13073_2019_654_MOESM2_ESM.xlsx, sheet 24

View BVdb publication page

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Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients.

Molecular Genetics & Genomic Medicine

Petrova, Guergana G; Yaneva, Nadezhda N; Hrbková, Jana J; Libik, Malgorzata M; Savov, Alexey A; Macek, Milan M

Publication Date: 2019-08

Variant appearance in text: CFTR: 1135G>T; E379X

PubMed Link: 31245908

Variant Present in the following documents:

• Main text
• MGG3-7-e696.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: 1135G>T; Glu379*

PubMed Link: 25910067

Variant Present in the following documents:

• Main text

View BVdb publication page

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