Platelet collagen defect

Study ID Alternative Stable ID Type
EGAS00001000105 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, is from families who have a platelet collagen defect. Exome sequencing has been performed as part of a discovery program to ascertain potential causative variants of the clinical phenotype.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
Platelet collagen defect
Illumina Genome Analyzer II,Illumina HiSeq 2000 11

Who archives the data?

There are no publications available