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Updated: Jun 4, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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A Deep Intronic Splice Variant in COL1A1 Causing Osteogenesis Imperfecta Type II

Mackenna E Schouw1,2, Claudia A L Ruivenkamp1, Tamara T Koopmann1

  • 1Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

American Journal of Medical Genetics. Part A
|December 23, 2024
PubMed

Keywords:
COL1A1case reportdeep intronic splicing variantslethal osteogenesis imperfecta

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