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Updated: May 1, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Prenatal skeletal dysplasia phenotype in severe MLII alpha/beta with novel GNPTAB mutation

Shagun Aggarwal1, Maria Francisca Coutinho2, Ashwin B Dalal3

  • 1Department of Medical Genetics, Nizam's Institute of Medical Sciences, Hyderabad, India; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India.

Gene
|April 2, 2014
PubMed

Keywords:
GNPTABMolecular characterizationMucolipidosis type II alpha/betaSkeletal dysplasia

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