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Nuria Ochoa Parra

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Articles

Expanding the genetic burden of low-evidence genes in pulmonary arterial hypertension

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By Lucía Miranda-Alcaraz, Natalia Gallego-Zazo, Alejandro Cruz-Utrilla, Irene de Miguel, Eva Ortiz, Alejandro Parra, Mario Cazalla, Sergio Ramos, Valeria Vásquez-Amell, Pedro Arias, Julian NEVADO, Pablo Lapunzina, Pilar Escribano-Subías, Jair Antonio Tenorio-Castaño, Mónica Mora-Gómez, Nuria Ochoa Parra, Juan Andrés Jiménez-Estrada, Manuel Rodríguez-Canó, Cristina Silván, Vinicio de Jesús Pérez
| Nature Verified
Abstract Pulmonary arterial hypertension (PAH) is a severe disease characterized by elevated pulmonary artery pressure, leading to heart failure and premature death if untreated. Genetic factors significantly contribute to PAH, and several genes have been linked to its development. According to the ClinGen PH-GCEP group, 12 genes have definitive evidence of association with PAH, three have moderate evidence, six have limited evidence, and five remain disputed due to insufficient genetic data.
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