Ontology highlight
ABSTRACT:
SUBMITTER: Sanyoura M
PROVIDER: S-EPMC6544496 | biostudies-literature | 2019 May
REPOSITORIES: biostudies-literature
Diabetes research and clinical practice 20190504
We report on 134 unique GCK variants in 217 families, including 27 unpublished variants, identified in the US Monogenic Diabetes Registry in the last decade. Using ACMG guidelines, 26% were pathogenic, 56% likely pathogenic and 18% were of uncertain significance. Those with pathogenic variants had clinical features consistent with GCK-MODY. ...[more]