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Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension.

Christina A EichstaedtZoe SaßmannshausenMemoona ShaukatDing CaoPanagiota XanthouliHenning GallNatascha SommerHossein-Ardeschir GhofraniHans-Jürgen SeyfarthMarianne LercheMichael HalankJanina KleymannNicola BenjaminSatenik HarutyunovaBenjamin EgenlaufKatrin MilgerStephan RosenkranzRalf EwertHans KloseMarius M HoeperKaren M OlssonMareike LankeitTobias J LangeKatrin HinderhoferEkkehard Grünig
Published in: Respiratory research (2022)
Genetic defects were identified in 23% of the patients in a total of 11 PAH genes. This illustrates the benefit of the specific gene panel containing all known PAH genes.
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