Results 241 to 250 of about 714,611 (262)

DynaMut2: Assessing changes in stability and flexibility upon single and multiple point missense mutations

Protein Science, 2021
Douglas E V Pires, Carlos H M Rodrigues, David B Ascher   +2 more
exaly  

Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein

Genetics in Medicine, 2022
Lisenka Vissers, Simon Fisher, Karen J Low   +2 more
exaly  

Molecular Mechanisms and Clinical Phenotypes of GJB2 Missense Variants

Biology, 2023
Hong-En Xu, Wenxue Tang, Yueqiang Wang
exaly  

Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer

Frontiers in Genetics, 2023
Hilal Keskin Karakoyun, Sirin Kilicturgay Yuksel, Cemaliye Boylu Akyerli   +2 more
exaly  

Re-evaluation of missense variant classifications in NF2

Human Mutation, 2022
Charlie F Rowlands, Ludwine Messiaen, Miriam J Smith   +2 more
exaly  

Cancer-causing BRCA2 missense mutations disrupt an intracellular protein assembly mechanism to disable genome maintenance

Nucleic Acids Research, 2021
David Shorthouse, Robert Mahen, Ashok Venkitaraman   +2 more
exaly  

Rare inherited missense variants of associate with autism risk and disrupt neuronal development

Journal of Genetics and Genomics, 2019
Lu Shen, Jing-Ping Zhao, Kun Xia
exaly  

Mutant thermal proteome profiling for characterization of missense protein variants and their associated phenotypes within the proteome

Journal of Biological Chemistry, 2020
Amber L. Mosley, Jonah Vilseck, Aruna Wijeratne   +2 more
exaly