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Updated: Aug 31, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Novel TRPV4 Pathogenic Variant in Severe Metatropic Skeletal Dysplasia: A Case Report

D James1, L Subramanian1,2, A Selina1,2

  • 1Department of Paediatric Orthopaedics, Christian Medical College, Vellore, India.

Malaysian Orthopaedic Journal
|August 22, 2022
PubMed

Keywords:
Metatropic dysplasiahomozygous TRPV4 gene variantsevere autosomal recessive formsevere dwarfism

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