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Article

Partial GCK gene deletion mutations causing maturity-onset diabetes of the young.

Acta diabetologica - 1 Jan 2024

Yu Ruiqi, Zhang Haichen, Xiao Xinhua

Abstract excerpt

AIMS: Maturity-onset diabetes of the young (MODY) is an autosomal dominant monogenic form of diabetes, and glucokinase-maturity-onset diabetes of the young (GCK-MODY), or MODY 2, being the most prevalent type. However, the presence of copy number variants (CNVs) may lead to misdiagnoses, as genetic testing for MODY is typically reliant on sequencing techniques. This study aimed to describe the process of...

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PMID: 37704826
DOI: 10.1007/s00592-023-02173-1

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