Publications:

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Modulator Therapy in Cystic Fibrosis Patients with cis Variants in F508del Complex Allele: A Short-Term Observational Case Series.

Journal Of Personalized Medicine

Terlizzi, Vito V; Centrone, Claudia C; Ferrari, Beatrice B; Castellani, Chiara C; Gunawardena, Tarini N A TNA; Taccetti, Giovanni G; Laselva, Onofrio O

Publication Date: 2022-08-31

Variant appearance in text: CFTR: F87L

PubMed Link: 36143206

Variant Present in the following documents:

• Main text
• jpm-12-01421.pdf

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High frequency of complex CFTR alleles associated with c.1521_1523delCTT (F508del) in Russian cystic fibrosis patients.

Bmc Genomics

Petrova, Nika V NV; Kashirskaya, Nataliya Y NY; Vasilyeva, Tatyana A TA; Balinova, Natalia V NV; Marakhonov, Andrey V AV; Kondratyeva, Elena I EI; Zhekaite, Elena K EK; Voronkova, Anna Y AY; Kutsev, Sergey I SI; Zinchenko, Rena A RA

Publication Date: 2022-04-01

Variant appearance in text: CFTR: F87L

PubMed Link: 35365085

Variant Present in the following documents:

• Main text
• 12864_2022_Article_8466.pdf

View BVdb publication page

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Molecular dynamics and functional characterization of I37R-CFTR lasso mutation provide insights into channel gating activity.

Iscience

Wong, Sharon L SL; Awatade, Nikhil T NT; Astore, Miro A MA; Allan, Katelin M KM; Carnell, Michael J MJ; Slapetova, Iveta I; Chen, Po-Chia PC; Capraro, Alexander A; Fawcett, Laura K LK; Whan, Renee M RM; Griffith, Renate R; Ooi, Chee Y CY; Kuyucak, Serdar S; Jaffe, Adam A; Waters, Shafagh A SA

Publication Date: 2022-01-21

Variant appearance in text: CFTR: F87L

PubMed Link: 35072004

Variant Present in the following documents:

• Main text
• main.pdf

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Treatment of Cystic Fibrosis Patients Homozygous for F508del with Lumacaftor-Ivacaftor (Orkambi®) Restores Defective CFTR Channel Function in Circulating Mononuclear Cells.

International Journal Of Molecular Sciences

Favia, Maria M; Gallo, Crescenzio C; Guerra, Lorenzo L; De Venuto, Domenica D; Diana, Anna A; Polizzi, Angela Maria AM; Montemurro, Pasqualina P; Mariggiò, Maria Addolorata MA; Leonetti, Giuseppina G; Manca, Antonio A; Casavola, Valeria V; Conese, Massimo M

Publication Date: 2020-03-31

Variant appearance in text: CFTR: F87L

PubMed Link: 32244302

Variant Present in the following documents:

• Main text
• ijms-21-02398.pdf

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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: F87L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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Reconstructing large regions of an ancestral mammalian genome in silico.

Genome Research

Blanchette, Mathieu M; Green, Eric D ED; Miller, Webb W; Haussler, David D

Publication Date: 2004-12

Variant appearance in text: CFTR: F87L

PubMed Link: 15574820

Variant Present in the following documents:

• Main text

View BVdb publication page

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