GCK-MODY in the US Monogenic Diabetes Registry: description of 27 unpublished variants

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Abstract

We report on 134 unique GCK variants in 217 families, including 27 unpublished variants, identified in the US Monogenic Diabetes Registry in the last decade.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

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Journal

Title: Diabetes Research and Clinical Practice

Abbreviated Title: Diabetes Research and Clinical Practice

Publisher: Elsevier BV

ISSN (Print): 01688227

Publication date Created: May 2019

Publication date (Print): May 2019

Article

DOI: 10.1016/j.diabres.2019.04.017

PMC ID: 6544496

PubMed ID: 31063852

SO-VID: df24b962-aa2c-4764-95e2-c747f2f4d0b5

License:

https://www.elsevier.com/tdm/userlicense/1.0/

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