Characterizing glucokinase variant mechanisms using a multiplexed abundance assay
Abstract Background Amino acid substitutions can perturb protein activity in multiple ways. Understanding their mechanistic basis may pinpoint how residues contribute to protein function. Here, we characterize the mechanisms underlying variant effects in human glucokinase (GCK) variants, building on...
Main Authors: | , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2024-04-01
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Series: | Genome Biology |
Subjects: | |
Online Access: | https://doi.org/10.1186/s13059-024-03238-2 |