Publications:

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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: rs121909036

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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Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report.

Bmc Medical Genomics

Martínez-Hernández, Angélica A; Larrosa, Julieta J; Barajas-Olmos, Francisco F; García-Ortíz, Humberto H; Mendoza-Caamal, Elvia C EC; Contreras-Cubas, Cecilia C; Mirzaeicheshmeh, Elaheh E; Lezana, José Luis JL; Orozco, Lorena L

Publication Date: 2019-05-22

Variant appearance in text: CFTR: L1065R

PubMed Link: 31118044

Variant Present in the following documents:

• 12920_2019_Article_528.pdf

View BVdb publication page

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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: L1065R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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: 3194T>G; L1065R

PubMed Link: 25910067

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: 3194T>G; L1065R

PubMed Link: 24586523

Variant Present in the following documents:

• Main text
• pone.0089094.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: rs121909036

PubMed Link: 23974870

Variant Present in the following documents:

• NIHMS512446-supplement-12.xlsx, sheet 2

View BVdb publication page

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Cystic fibrosis transmembrane conductance regulator (CFTR) allelic variants relate to shifts in faecal microbiota of cystic fibrosis patients.

Plos One

Schippa, Serena S; Iebba, Valerio V; Santangelo, Floriana F; Gagliardi, Antonella A; De Biase, Riccardo Valerio RV; Stamato, Antonella A; Bertasi, Serenella S; Lucarelli, Marco M; Conte, Maria Pia MP; Quattrucci, Serena S

Publication Date: 2013

Variant appearance in text: CFTR: L1065R

PubMed Link: 23613805

Variant Present in the following documents:

• Main text
• pone.0061176.pdf

View BVdb publication page

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