Publications:

Splicing mutations in the CFTR gene as therapeutic targets.

Gene Therapy

Deletang, Karine K; Taulan-Cadars, Magali M

Publication Date: 2022-08

Variant appearance in text: CFTR: 1679+1643G>T

PubMed Link: 35650428

Variant Present in the following documents:

• 41434_2022_Article_347.pdf

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Novel bioinformatics quality control metric for next-generation sequencing experiments in the clinical context.

Nucleic Acids Research

Ivanov, Maxim M; Ivanov, Mikhail M; Kasianov, Artem A; Rozhavskaya, Ekaterina E; Musienko, Sergey S; Baranova, Ancha A; Mileyko, Vladislav V

Publication Date: 2019-12-02

Variant appearance in text: rs397508261

PubMed Link: 31511888

Variant Present in the following documents:

• Main text
• gkz775.pdf

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Phenotypic Characterization of the c.1679+1643G>T (1811+1643G>T) Mutation in Hispanic Cystic Fibrosis Patients.

Children (Basel, Switzerland)

Fanous, Hani K HK; Delgado-Villata, Silvia S; Kovacs, Reka R; Shalaby-Rana, Eglal E; Sami-Zakahri, Iman I

Publication Date: 2018-07-03

Variant appearance in text: CFTR: 1679+1643G>T

PubMed Link: 29970830

Variant Present in the following documents:

• Main text
• children-05-00091.pdf

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Systematic Computational Identification of Variants That Activate Exonic and Intronic Cryptic Splice Sites.

American Journal Of Human Genetics

Lee, Melissa M; Roos, Patrick P; Sharma, Neeraj N; Atalar, Melis M; Evans, Taylor A TA; Pellicore, Matthew J MJ; Davis, Emily E; Lam, Anh-Thu N AN; Stanley, Susan E SE; Khalil, Sara E SE; Solomon, George M GM; Walker, Doug D; Raraigh, Karen S KS; Vecchio-Pagan, Briana B; Armanios, Mary M; Cutting, Garry R GR

Publication Date: 2017-05-04

Variant appearance in text: CFTR: 1679+1643G>T; rs397508261

PubMed Link: 28475858

Variant Present in the following documents:

• Main text

View BVdb publication page