Grey Platelet Syndrome GPS

Study ID Alternative Stable ID Type
EGAS00001000091 Other

Study Description

As part of the Bloodomics collaboration we have several categories of pedigrees with diseases/syndromes relevant to cardiovascular diseases (CVD). One such pedigree, Grey Platelet Syndrome (GPS) is a rare congenital bleeding disorder caused by a reduction or absence of alpha granules in platelets. Exome sequencing has been performed as part of a discovery program to ascertain potential causative variants of the clinical phenotype.

Study Datasets 1 dataset.

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID Description Technology Samples
Grey Platelet Syndrome (GPS)
Illumina Genome Analyzer II 5

Who archives the data?

There are no publications available