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Updated: May 8, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Published on: August 15, 2019

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半性SMARCA1变异会导致X相关的智力障碍

Naoto Nishimura1, Takeshi Mizuguchi1, Keisuke Hamada2

  • 1Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

Journal of human genetics
|May 2, 2025
PubMed
概括

在男性中,SMARCA1基因的新型变异会导致X关联智力障碍 (XLID). 这项研究确定了与XLID,大脑症和性衰竭相关的新遗传变异.

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The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
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