PANAGIOTIS KATSONIS to Mutation, Missense
This is a "connection" page, showing publications PANAGIOTIS KATSONIS has written about Mutation, Missense.
Connection Strength
1.691
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Meta-EA: a gene-specific combination of available computational tools for predicting missense variant effects. Nat Commun. 2025 01 02; 16(1):159.
Score: 0.650
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Objective assessment of the evolutionary action equation for the fitness effect of missense mutations across CAGI-blinded contests. Hum Mutat. 2017 09; 38(9):1072-1084.
Score: 0.386
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Assessing predictions on fitness effects of missense variants in HMBS in CAGI6. Hum Genet. 2025 Mar; 144(2-3):173-189.
Score: 0.158
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Assessing predictions on fitness effects of missense variants in calmodulin. Hum Mutat. 2019 09; 40(9):1463-1473.
Score: 0.112
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Assessment of predicted enzymatic activity of a-N-acetylglucosaminidase variants of unknown significance for CAGI 2016. Hum Mutat. 2019 09; 40(9):1519-1529.
Score: 0.112
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Performance of computational methods for the evaluation of pericentriolar material 1 missense variants in CAGI-5. Hum Mutat. 2019 09; 40(9):1474-1485.
Score: 0.112
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Evaluation of enzyme activity predictions for variants of unknown significance in Arylsulfatase A. Hum Genet. 2025 Mar; 144(2-3):295-308.
Score: 0.041
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Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers. Hum Genet. 2025 Mar; 144(2-3):127-142.
Score: 0.041
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Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt. Am J Hum Genet. 2024 03 07; 111(3):487-508.
Score: 0.038
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Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5). Bone. 2018 02; 107:161-171.
Score: 0.025
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Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations. Hum Mutat. 2011 Jun; 32(6):579-89.
Score: 0.016