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

A novel truncating FBN1 variant in a family with Marfan syndrome

Yuka Ito1, Hiroshi Suzumura2,3, Yuko Tanaka3,4,5

  • 1Department of Genetic Diagnosis and Laboratory Medicine, Dokkyo Medical University, Tochigi, Japan. yuka-ito@dokkyomed.ac.jp.

Human Genome Variation
|June 12, 2026
PubMed

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