遇见数据集

Grey Platelet Syndrome GPS

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NIAID Data Ecosystem2026-03-10 收录
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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.EGA study EGAS00001000091

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2017-07-26
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