GCK-MODY in the US Monogenic Diabetes Registry: description of 27 unpublished variants

We report on 134 unique GCK variants in 217 families, including 27 unpublished variants, identified in the US Monogenic Diabetes Registry in the last decade.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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發表在:Diabetes Res Clin Pract
Main Authors: Sanyoura, May, Letourneau, Lisa, Knight Johnson, Amy E., del Gaudio, Daniela, Greeley, Siri Atma W., Philipson, Louis H., Naylor, Rochelle N.
格式: Artigo
語言:Inglês
出版: 2019
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Article
在線閱讀: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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