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Updated: Jul 2, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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新型变体在家族中心早期青春期中产生基因组印记

V Karaman1, E Karakilic-Ozturan2, S Poyrazoglu2

  • 1Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Millet Cad. Çapa/Fatih, 34096, Istanbul, Turkey. volkan.karaman@istanbul.edu.tr.

Journal of endocrinological investigation
|February 17, 2024
PubMed
概括

在MKRN3和DLK1基因的遗传变异与中央早熟青春期 (CPP) 有关. 确定了新的DLK1变异,与受影响个体的低血清DLK1水平相关,进一步了解了CPP的分子基础.

关键词:
在 DLK1 的位置上.这是一个MKRN3MKRN3MKRN3MKRN3MKRN中部早熟青春期 中部早熟青春期

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