Associated Papers
Rare loss-of-function mutations of PTGIR are enriched in fibromuscular dysplasia.
Georges A et al.
Cardiovascular Research, 2021
32531060 (PubMed )
Supplement: cvaa161_supplementary_data.docx
Use of next-generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders.
Leo VC et al.
Journal of Thrombosis and Haemostasis : Jth, 2015
Identification and Characterization of Novel Variations in Platelet G-Protein Coupled Receptor (GPCR) Genes in Patients Historically Diagnosed with Type 1 von Willebrand Disease.
Stockley J et al.
Plos One, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1871.656
Comprehensive biochemical analysis of rare prostacyclin receptor variants: study of association of signaling with coronary artery obstruction.
Stitham J et al.
The Journal of Biological Chemistry, 2011
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