A novel variant in GPAA1, encoding a GPI transamidase complex protein, causes inherited vascular anomalies with various phenotypes
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DOI: 10.1007/s00439-020-02192-w
Abstract: Vascular anomalies (VAs), comprising wide subtypes of tumors and malformations, are often caused by variants in multiple tyrosine kinase (TK) receptor signaling pathways including TIE2, PIK3CA and GNAQ/11. Yet, a portion of individuals with clinical… read more here.
Keywords: protein; gpi transamidase; vascular anomalies; variant gpaa1 ... See more keywords