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Benign Outcome among Positive Cystic Fibrosis Newborn Screen Children with Non CF-causing Variants

BACKGROUND: The Clinical and Functional Translation of CFTR project (CFTR2) classified some cystic fibrosis transmembrane conductance regulator (CFTR) gene variants as non cystic fibrosis (CF)-causing. To evaluate this, the clinical status of children carrying these mutations was examined. METHODS:...

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Publicado en:J Cyst Fibros
Autores principales: Salinas, Danieli Barino, Sosnay, Patrick R., Azen, Colleen, Young, Suzanne, Raraigh, Karen S., Keens, Thomas G., Kharrazi, Martin
Formato: Artigo
Lenguaje:Inglês
Publicado: 2015
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4587349/
https://ncbi.nlm.nih.gov/pubmed/25824995
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jcf.2015.03.006
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