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A Novel KLF11 c.793G>A (p.Glu265Lys) Variant Identified in a Chinese Family with Controversial Association with MODY7.

Clinical laboratory - 1 Aug 2024

Song Lingyun, Sun Di, Pang Ping, Yang Guoqing

Abstract excerpt

BACKGROUND: Krüppel-like 11 factor (KLF11) gene mutation has been implicated in the pathogenesis of maturity onset diabetes of the young type 7 (MODY7). Recently, this potential correlation has been questioned, suggesting the need for more comprehensive diagnostic approaches. METHODS: The proband is a 30-years-old male who underwent next-generation sequencing (NGS). This was followed by whole-exon sequencing of...

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PMID: 39193968
DOI: 10.7754/Clin.Lab.2024.240241

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