Get started
Keyword

mutation significance

Description: The assessment of whether a genetic mutation has a meaningful functional or clinical effect rather than being neutral or incidental.
OpenAlex ID: keywords/mutation-significance
Significance of TP53 mutations in human cancer: A critical analysis of mutations at CpG dinucleotides
2003 · Thierry Soussi, Christophe Béroud · Human Mutation · 103
PDF
Murine Brca1: sequence and significance for human missense mutations
1995 · Shyam K. Sharan, Marie Wims, et al. · Human Molecular Genetics · 50
Machine Learning-Driven Integration of Genetic and Textual Data for Enhanced Genetic Variation Classification
2024 · Malkapurapu Sivamanikanta, N Ravinder · International Journal of Advanced Computer Science and Applications · 1
PDF
The Differences in Significance of MDM2 Missense Mutations & TP53 Missense Mutations in Ovarian Epithelial Tumors
2026 · Sadhvi Reddy · Oxford Journal of Student Scholarship
PDF
Supplementary Table 7 from Comprehensive Evaluation of Protein Coding Mononucleotide Microsatellites in Microsatellite-Unstable Colorectal Cancer
2023 · Johanna Kondelin, Alexandra E. Gylfe, et al.
Supplementary Table 7 from Comprehensive Evaluation of Protein Coding Mononucleotide Microsatellites in Microsatellite-Unstable Colorectal Cancer
2023 · Johanna Kondelin, Alexandra E. Gylfe, et al.
PDF
Comprehensive Molecular Profiling of Idiopathic Erythrocytosis By Genetic Ancestry
2019 · Caitlin O'Neill, Zarko Manojlovic, et al. · Blood
A phylogenetic approach for assessing the significance of missense mutations in disease genes
2003 · Franscisco Mauro Santibanez Koref, R Gangeswaran, et al. · Newcastle University ePrints (Newcastle Univesity)
Faculty Opinions recommendation of A phylogenetic approach to assessing the significance of missense mutations in disease genes.
2003 · Janet Thornton · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
Works count: 1,190
Citation count: 162
Year
Topic
Type