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2024
Structural mapping of patient-associated KCNMA1 gene variants
Biophysical Journal
2023
Protein structure-based evaluation of missense variants: Resources, challenges and future directions
Current Opinion in Structural Biology
2023
VariBench, new variation benchmark categories and data sets
Frontiers in Bioinformatics
2023
Identifying the Common Cell-Free DNA Biomarkers across Seven Major Cancer Types
Biology
2022
Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome
Metabolites
2022
Allergic and Immunologic Diseases
2021
Identification of LRRK2 missense variants in the accelerating medicines partnership Parkinson’s disease cohort
Human Molecular Genetics
2020
In-silico analysis to identify the role of MEN1 missense mutations in breast cancer
Journal of Theoretical and Computational Chemistry
2020
An Ensemble Approach to Predict the Pathogenicity of Synonymous Variants
Genes
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