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GCK-MODY in the US Monogenic Diabetes Registry: description of 27 unpublished variants
We report on 134 unique GCK variants in 217 families, including 27 unpublished variants, identified in the US Monogenic Diabetes Registry in the last decade.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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Diabetes Res Clin Pract |
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| Κύριοι συγγραφείς: | , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2019
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| Θέματα: | |
| Διαθέσιμο Online: | 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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