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Publications by Katarina L. Fabre
Functional Annotation of KCNQ1 Variants of Unknown Significance Using Automated Electrophysiology
Biophysical Journal
Biophysics
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Functional Consequences of Epilepsy-Associated KCNQ2 Variants Determinend by Automated Electrophysiology
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Genetic and Histopathologic Evaluation ofBRCA1andBRCA2DNA Sequence Variants of Unknown Clinical Significance
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Pharmacogenomic Next-Generation DNA Sequencing: Lessons From the Identification and Functional Characterization of Variants of Unknown Significance in CYP2C9 and CYP2C19
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Determining Functional KCNQ1/KCNE1 Subunit Interactions in the KCNQ1/KCNE1 Channel
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WS-SNPs&GO: A Web Server for Predicting the Deleterious Effect of Human Protein Variants Using Functional Annotation
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Assessment of Predicted Enzymatic Activity of Alpha‐N‐acetylglucosaminidase (NAGLU) Variants of Unknown Significance for CAGI 2016
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Utilizing ExAC to Assess the Hidden Contribution of Variants of Unknown Significance to Sanfilippo Type B Incidence
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Deciphering the Genetic Basis of Common Diseases by Integrated Functional Annotation of Common and Rare Variants
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Functional Analysis of BRCA1 Missense Variants of Uncertain Significance in Japanese Breast Cancer Families
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