GCK-MODY in the US Monogenic Diabetes Registry: description of 27 unpublished variants

We report on 134 unique GCK variants in 217 families, including 27 unpublished variants, identified in the US Monogenic Diabetes Registry in the last decade.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

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Diabetes Res Clin Pract
Prif Awduron: Sanyoura, May, Letourneau, Lisa, Knight Johnson, Amy E., del Gaudio, Daniela, Greeley, Siri Atma W., Philipson, Louis H., Naylor, Rochelle N.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2019
Pynciau:
Article
Mynediad Ar-lein: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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