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Updated: Sep 9, 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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通常のデータベースにおける単アルレ性および双アルレ性病原性RPE65変種の集団頻度の決定

Rahman Abdul1, Xiaoyi Liu1, Kirsty Choi1

  • 1The University of Melbourne Department of Medicine (Northern Health and Melbourne Health) Parkville Victoria, Australia.

Investigative ophthalmology & visual science
|August 29, 2025
PubMed
まとめ

この研究では,遺伝子変異の生物情報分析を用いて,RPE65に関連する網膜病変の有病率を推定した. 予測される病原性変異は,408分の1のキャリアの頻度を示唆し,病気のリスクに影響を与えます.

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