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The Effect of Synonymous Single-Nucleotide Polymorphisms on an Atypical Cystic Fibrosis Clinical Presentation

Synonymous single nucleotide polymorphisms (sSNPs), which change a nucleotide, but not the encoded amino acid, are perceived as neutral to protein function and thus, classified as benign. We report a patient who was diagnosed with cystic fibrosis (CF) at an advanced age and presented very mild CF sy...

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Detalhes bibliográficos
Publicado no:Life (Basel)
Main Authors: Bampi, Giovana B., Ramalho, Anabela S., Santos, Leonardo A., Wagner, Johannes, Dupont, Lieven, Cuppens, Harry, De Boeck, Kris, Ignatova, Zoya
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7824434/
https://ncbi.nlm.nih.gov/pubmed/33375403
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/life11010014
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