Determining the pathogenicity of CFTR missense variants: Multiple comparisons of in silico predictors and variant annotation databases

Pathogenic variants in the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) are responsible for cystic fibrosis (CF), the commonest monogenic autosomal recessive disease, and CFTR-related disorders in infants and youth. Diagnosis of such diseases relies on clinical, functional, and mo...

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Detalles Bibliográficos
Autores principales: Michels, Marcus, Matte, Ursula, Fraga, Lucas Rosa, Mancuso, Aline Castello Branco, Ligabue-Braun, Rodrigo, Berneira, Elias Figueroa Rodrigues, Siebert, Marina, Sanseverino, Maria Teresa Vieira
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2019
Materias:
Human and Medical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6905453/
https://www.ncbi.nlm.nih.gov/pubmed/31808782
http://dx.doi.org/10.1590/1678-4685-GMB-2018-0148

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6905453/
https://www.ncbi.nlm.nih.gov/pubmed/31808782
http://dx.doi.org/10.1590/1678-4685-GMB-2018-0148

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