Ecosyste.ms: Papers
An open API service providing mapping between scientific papers and software projects that are mentioned in them.
All mentions data is based on the CZI Software Mentions dataset.
Papers: 10.1038/s41598-020-66978-8
https://doi.org/10.1038/s41598-020-66978-8
A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features
Cited by: 12
Author(s): Daniel R. Evans, Jane S. Green, Somayyeh Fahiminiya, Jacek Majewski, Bridget A. Fernandez, Matthew A. Deardorff, Gordon J. Johnson, James Whelan, Dirk Hubmacher, Suneel S. Apte, Michael O. Woods
Published: over 4 years ago