Associated Papers
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2
Understanding the impact of ZBTB18 missense variation on transcription factor function in neurodevelopment and disease.
Heng JI et al.
Journal of Neurochemistry, 2022
Structure-Based Approaches to Classify the Functional Impact of ZBTB18 Missense Variants in Health and Disease.
Blake S et al.
Acs Chemical Neuroscience, 2021
General population ZBTB18 missense variants influence DNA binding and transcriptional regulation.
Hemming IA et al.
Human Mutation, 2020
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