Publications:

Analysis of the genotypic profile and its relationship with the clinical manifestations in people with cystic fibrosis: study from a rare disease registry.

Orphanet Journal Of Rare Diseases

Rueda-Nieto, Senay S; Mondejar-Lopez, Pedro P; Mira-Escolano, María-Pilar MP; Cutillas-Tolín, Ana A; Maceda-Roldán, Luis Alberto LA; Arense-Gonzalo, Julián Jesús JJ; Palomar-Rodríguez, Joaquín A JA

Publication Date: 2022-06-13

Variant appearance in text: CFTR: R560G

PubMed Link: 35698092

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2373.pdf

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Revertant mutants G550E and 4RK rescue cystic fibrosis mutants in the first nucleotide-binding domain of CFTR by different mechanisms.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Roxo-Rosa, Mónica M; Xu, Zhe Z; Schmidt, André A; Neto, Mário M; Cai, Zhiwei Z; Soares, Cláudio M CM; Sheppard, David N DN; Amaral, Margarida D MD

Publication Date: 2006-11-21

Variant appearance in text: CFTR: R560G

PubMed Link: 17098864

Variant Present in the following documents:

• Main text

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