A copy of this work was available on the public web and has been preserved in the Wayback Machine. The capture dates from 2019; you can also visit the original URL.
The file type is application/pdf
.
PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases
2015
Human Mutation
The discovery of disease-causing mutations typically requires confirmation of the variant or gene in multiple unrelated individuals, and a large number of rare genetic diseases remain unsolved due to difficulty identifying second families. To enable the secure sharing of case records by clinicians and rare disease scientists, we have developed the PhenomeCentral portal (https:// phenomecentral.org). Each record includes a phenotypic description and relevant genetic information (exome or
doi:10.1002/humu.22851
pmid:26251998
pmcid:PMC5467641
fatcat:wt3uvlhaxze55h54byafspg3d4