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Updated: Sep 10, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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2型ポント・セレベラ・ヒポプラシアを引き起こす双アレル TSEN2変種

Yukina Hayashi1, Keisuke Hamada2, Kavitha Rethanavelu3

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

Journal of human genetics
|August 26, 2025
PubMed
まとめ

この研究では,TSEN2遺伝子の新型変異を患った少数の小脳皮質低形成症 (PCH2B) の症例が詳細に示されています. 発見は,PCH2Bの遺伝的原因と遺伝子型-フェノタイプ相関の理解を広げています.

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