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Characterization of rare ABCC8 variants identified in Spanish pulmonary arterial hypertension patients
2020
Scientific Reports
Pulmonary Arterial Hypertension (PAH) is a rare and fatal disease where knowledge about its genetic basis continues to increase. In this study, we used targeted panel sequencing in a cohort of 624 adult and pediatric patients from the Spanish PAH registry. We identified 11 rare variants in the ATP-binding Cassette subfamily C member 8 (ABCC8) gene, most of them with splicing alteration predictions. One patient also carried another variant in SMAD1 gene (c.27delinsGTAAAG). We performed an ABCC8
doi:10.1038/s41598-020-72089-1
pmid:32934261
fatcat:7emb6rcdzneltho4fpeqnq2epy