[PROVISIONAL] Determining the Pathogenicity of CFTR Missense Variants: Multiple Comparison of in silico Predictors and Variant Annotation Databases

[PROVISIONAL] Determining the Pathogenicity of CFTR Missense Variants: Multiple Comparison of in silico Predictors and Variant Annotation Databases

Abstract 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, functiona...

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Bibliographic Details
Main Authors: Marcus Michels, Ursula Matte, Lucas Rosa Fraga, Aline Castello Branco Mancuso, Rodrigo Ligabue-Braun, Elias Figueroa Rodrigues Berneira, Marina Siebert, Maria Teresa Vieira Sanseverino
Format: Article
Language:English
Published: Sociedade Brasileira de Genética
Series:Genetics and Molecular Biology
Subjects:
CFTR
Missense variant
Prediction
Bioinformatics
Cystic fibrosis
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019005028101&lng=en&tlng=en

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http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019005028101&lng=en&tlng=en

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