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Copy Number Variation in GCK in Patients With Maturity-Onset Diabetes of the Young

PURPOSE: Next generation sequencing (NGS) methods to diagnose maturity-onset diabetes of the young (MODY), a monogenic autosomal dominant cause of diabetes, do not typically detect large-scale copy number variations (CNVs). New techniques may allow assessment for CNVs using output data from targeted...

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Pubblicato in:J Clin Endocrinol Metab
Autori principali: Berberich, Amanda J, Huot, Céline, Cao, Henian, McIntyre, Adam D, Robinson, John F, Wang, Jian, Hegele, Robert A
Natura: Artigo
Lingua:Inglês
Pubblicazione: Endocrine Society 2019
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6594302/
https://ncbi.nlm.nih.gov/pubmed/30912798
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2018-02574
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