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Publications by Elias Figueroa Rodrigues Berneira
[PROVISIONAL] Determining the Pathogenicity of CFTR Missense Variants: Multiple Comparison of in Silico Predictors and Variant Annotation Databases
Genetics and Molecular Biology
Genetics
Molecular Biology
Related publications
Predicting Pathogenicity of Missense Variants With Weakly Supervised Regression
Human Mutation
Genetics
Predicting Variant Pathogenicity in the Cardiac Sodium Channel Using Paralogue Annotation
Biophysical Journal
Biophysics
Mutation Type Classification and Pathogenicity Assignment of Sixteen Missense Variants Located in the EGF-precursor Homology Domain of the LDLR
Scientific Reports
Multidisciplinary
A Variant by Any Name: Quantifying Annotation Discordance Across Tools and Clinical Databases
Genome Medicine
Molecular Medicine
Genetics
Molecular Biology
Factors Determining Pathogenicity of Variants of Echo 9 Virus for Newborn Mice
Journal of Experimental Medicine
Medicine
Allergy
Immunology
A Combined in Silico, in Vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa
Frontiers in Genetics
Genetics
Molecular Medicine
Assessing the Performance of In-Silico Methods for Predicting the Pathogenicity of Variants in the Gene CHEK2, Among Hispanic Females With Breast Cancer
Human Mutation
Genetics
Characterization of Human Frataxin Missense Variants in Cancer Tissues
Human Mutation
Genetics
Consideration of Cosegregation in the Pathogenicity Classification of Genomic Variants
American Journal of Human Genetics
Genetics
