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Updated: Sep 17, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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在TYMS中,内源性六核酸重复扩张发生在具有先天性渐进性普遍黑色素瘤的单胞胎双胞胎中

Sunisa Kanchanasutthiyakorn1, Sakchai Chaiyamahapurk2, Siraprapa Tongkobpetch3,4

  • 1Program in Bioinformatics and Computational Biology, Graduate School, Chulalongkorn University, Bangkok 10330, Thailand.

Biomedical reports
|July 1, 2025
PubMed
概括

在单胞胎双胞胎中发现了先天性渐进性普遍黑色素瘤 (CPUM) 的新型遗传原因. TYMS基因的重复扩张与这种罕见的多颜色化疾病有关.

关键词:
时间表 时间表这是先天的,先天的.扩散性多颜色化是一种扩散性多颜色化.长读SMRT测序长读SMRT测序坦德姆重复扩张扩张.

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