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: 3719T>G; Val1240Gly

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: V1240G

PubMed Link: 36670555

Variant Present in the following documents:

• children-10-00004.pdf

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: V1240G

PubMed Link: 35652053

Variant Present in the following documents:

• Main text
• fped-10-881470.pdf

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: rs397508598

PubMed Link: 34541464

Variant Present in the following documents:

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

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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: 3719T>G; Val1240Gly; rs397508598

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

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Evaluation of both exonic and intronic variants for effects on RNA splicing allows for accurate assessment of the effectiveness of precision therapies.

Plos Genetics

Joynt, Anya T AT; Evans, Taylor A TA; Pellicore, Matthew J MJ; Davis-Marcisak, Emily F EF; Aksit, Melis A MA; Eastman, Alice C AC; Patel, Shivani U SU; Paul, Kathleen C KC; Osorio, Derek L DL; Bowling, Alyssa D AD; Cotton, Calvin U CU; Raraigh, Karen S KS; West, Natalie E NE; Merlo, Christian A CA; Cutting, Garry R GR; Sharma, Neeraj N

Publication Date: 2020-10

Variant appearance in text: CFTR: 3719T>G; V1240G

PubMed Link: 33085659

Variant Present in the following documents:

• Main text
• pgen.1009100.pdf
• pgen.1009100.s014.pdf

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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: 3719T>G; V1240G

PubMed Link: 25910067

Variant Present in the following documents:

• Main text

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Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy.

European Journal Of Human Genetics : Ejhg

Sobczyńska-Tomaszewska, Agnieszka A; Ołtarzewski, Mariusz M; Czerska, Kamila K; Wertheim-Tysarowska, Katarzyna K; Sands, Dorota D; Walkowiak, Jarosław J; Bal, Jerzy J; Mazurczak, Tadeusz T; ,

Publication Date: 2013-04

Variant appearance in text: CFTR: V1240G

PubMed Link: 22892530

Variant Present in the following documents:

• Main text

View BVdb publication page

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