Publications:

Clinical and Genetic Characterisation of Cystic Fibrosis Patients in Latvia: A Twenty-Five-Year Experience.

Diagnostics (Basel, Switzerland)

Auzenbaha, Madara M; Aleksejeva, Elina E; Taurina, Gita G; Kornejeva, Liene L; Kempa, Inga I; Svabe, Vija V; Gailite, Linda L

Publication Date: 2022-11-21

Variant appearance in text: CFTR: 503C>T; Ser168Leu

PubMed Link: 36428953

Variant Present in the following documents:

• Main text
• diagnostics-12-02893.pdf

View BVdb publication page

Next-Generation Sequencing for Molecular Diagnosis of Cystic Fibrosis in a Brazilian Cohort.

Disease Markers

Cambraia, Amanda A; Junior, Mario Campos MC; Zembrzuski, Verônica Marques VM; Junqueira, Ricardo Magrani RM; Cabello, Pedro Hernán PH; de Cabello, Giselda Maria Kalil GMK

Publication Date: 2021

Variant appearance in text: CFTR: Ser168Leu; rs869249241

PubMed Link: 33613790

Variant Present in the following documents:

• Main text
• DM2021-9812074.pdf

View BVdb publication page

Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic population.

Molecular Genetics & Genomic Medicine

Martins, Raisa da Silva RDS; Campos Junior, Mario M; Dos Santos Moreira, Aline A; Marques Zembrzuski, Verônica V; da Fonseca, Ana Carolina Proença ACP; Abreu, Gabriella de Medeiros GM; Cabello, Pedro Hernan PH; de Cabello, Giselda Maria Kalil GMK

Publication Date: 2019-07

Variant appearance in text: CFTR: 503C>T; S168L; rs869249241

PubMed Link: 31199594

Variant Present in the following documents:

• Main text
• MGG3-7-e00645.pdf

View BVdb publication page