GCK-MODY in the US Monogenic Diabetes Registry: description of 27 unpublished variants

We report on 134 unique GCK variants in 217 families, including 27 unpublished variants, identified in the US Monogenic Diabetes Registry in the last decade.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 c...

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Enregistré dans:
Détails bibliographiques
Publié dans:Diabetes Res Clin Pract
Auteurs principaux: Sanyoura, May, Letourneau, Lisa, Knight Johnson, Amy E., del Gaudio, Daniela, Greeley, Siri Atma W., Philipson, Louis H., Naylor, Rochelle N.
Format: Artigo
Langue:Inglês
Publié: 2019
Sujets:
Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6544496/
https://ncbi.nlm.nih.gov/pubmed/31063852
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.diabres.2019.04.017
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