Search Results - "Berneira, Elias Figueroa Rodrigues"
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Determining the pathogenicity of CFTR missense variants: Multiple comparisons of in silico predictors and variant annotation databases
Published in Genetics and molecular biology (01-07-2019)“…Pathogenic variants in the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) are responsible for cystic fibrosis (CF), the commonest monogenic…”
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Journal Article -
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[PROVISIONAL] Determining the Pathogenicity of CFTR Missense Variants: Multiple Comparison of in silico Predictors and Variant Annotation Databases
Published in Genetics and molecular biology“…Abstract Pathogenic variants in the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) are responsible for Cystic Fibrosis (CF), the commonest…”
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Journal Article