Spondyloepimetaphyseal dysplasia with elevated plasma lysosomal enzymes caused by homozygous variant in MBTPS1

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Updated: Dec 21, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

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Daniel R Carvalho1, Carlos E Speck-Martins1, Jaime M Brum1

  • 1SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil.

American Journal of Medical Genetics. Part A
|May 19, 2020
PubMed

Keywords:
MBTPS1cataractretromicrognathiasite-1 protease (S1P)spondylepimetaphyseal dysplasia

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