Associated Papers
Genetic and clinical characteristics of children with mody: insights into novel HNF4A variants and genotype-phenotype correlation.
Buhur Pirimoglu M et al.
Irish Journal of Medical Science, 2025
Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.
Gersing S et al.
Genome Biology, 2024
38627865 (PubMed )
Supplement: 13059_2024_3238_MOESM2_ESM.xlsx › abundance_scores
Characterizing glucokinase variant mechanisms using a multiplexed abundance assay.
Gersing S et al.
Biorxiv : the Preprint Server for Biology, 2023
37292969 (PubMed )
Supplement: media-2.xlsx › abundance_scores
A comprehensive map of human glucokinase variant activity.
Gersing S et al.
Genome Biology, 2023
37101203 (PubMed )
Supplement: 13059_2023_2935_MOESM2_ESM.xlsx › activity_scores
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