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1
Properties of incompletely penetrant cardiomyopathy-associated genome variants
Published 2025-02-01Subjects: Get full text
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2
Enhancing Missense Variant Pathogenicity Prediction with MissenseNet: Integrating Structural Insights and ShuffleNet-Based Deep Learning Techniques
Published 2024-09-01Subjects: Get full text
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3
Assessing the performance of 28 pathogenicity prediction methods on rare single nucleotide variants in coding regions
Published 2025-07-01Subjects: Get full text
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4
Variability of the mitochondrial genome in young Yakut patients with breast cancer
Published 2024-01-01Subjects: Get full text
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5
Benchmarking AlphaMissense pathogenicity predictions against APP, PSEN1, and PSEN2 variants of unknown significance
Published 2025-06-01Subjects: Get full text
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6
Prediction of human pathogenic start loss variants based on self-supervised contrastive learning
Published 2025-08-01Subjects: Get full text
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7
From chemoproteomic‐detected amino acids to genomic coordinates: insights into precise multi‐omic data integration
Published 2021-02-01Subjects: Get full text
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8
Sequence-structure based prediction of pathogenicity for amino acid substitutions in proteins associated with primary immunodeficiencies
Published 2025-02-01Subjects: Get full text
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