Abstract
Background and Aims: The APPL1 gene encodes a protein that can regulate cell proliferation and mediates cross-talk between adiponectin and insulin signaling. The aims of the work were 1) identification of potentially pathogenic mutations in the APPL1 gene in patients with an early onset diabetes by targeted NGS and 2) estimation of the prevalence of identified missense variant rs11544593 in a general Russian population, among type 2 diabetes mellitus (T2DM) and early onset diabetes.
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