Phenopackets for case reports of structural variants

Description

A collection of 188 published deleterious structural variants based on 182 cases published in 146 clinical case reports that describe individuals with Mendelian diseases.

Resources

Name Format Description Link
0 http://data.europa.eu/88u/dataset/oai-zenodo-org-5071267
0 http://data.europa.eu/88u/dataset/oai-zenodo-org-5071267

Tags

  • phenopacket;-structural-variation;-mendelian-disease

Topics

Categories