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Updated: Jun 15, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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对于CCDC201中一个停止增益变体的同卵性导致一次性卵巢缺陷

Asmundur Oddsson1, Valgerdur Steinthorsdottir1, Gudjon R Oskarsson1

  • 1deCODE genetics/Amgen, Inc., Reykjavik, Iceland.

Nature genetics
|August 27, 2024
PubMed
概括

在CCDC201基因中,一种罕见的遗传变异在同卵性女性中显著提前9年更年期. 这一发现影响了对女性生殖健康的理解,并需要为受影响的个体提供遗传咨询.

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