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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Bibliografiske detaljer
Udgivet i:Genet Mol Biol
Main Authors: Michels, Marcus, Matte, Ursula, Fraga, Lucas Rosa, Mancuso, Aline Castello Branco, Ligabue-Braun, Rodrigo, Berneira, Elias Figueroa Rodrigues, Siebert, Marina, Sanseverino, Maria Teresa Vieira
Format: Artigo
Sprog:Inglês
Udgivet: Sociedade Brasileira de Genética 2019
Fag:
Human and Medical Genetics
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6905453/
https://ncbi.nlm.nih.gov/pubmed/31808782
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1590/1678-4685-GMB-2018-0148
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