関連する実験動画

Updated: Oct 5, 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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人口ベースの有害な臨床変異の浸透率

Iain S Forrest1,2,3,4, Kumardeep Chaudhary1,3,4,5, Ha My T Vy1,4

  • 1The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York.

JAMA
|January 25, 2022
PubMed
まとめ

集団研究によると,病原性/機能喪失の変種による疾患のリスクはしばしば低く,変動する. よりよい変種解釈と臨床リスク評価のために,集団浸透率に関するさらなる研究が必要である.

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