Genetic & Genomic MedicineGenetics in MedicinePeer-reviewed
Defining the Clinical Validity of Genes Reported to Cause Pulmonary Arterial Hypertension
Carrie L. Welch, Micheala A. Aldred, Srimmitha Balachandar…·Dmitry A. Zateyshchikov
This paper classifies PAH-related genes based on evidence strength using a semi-quantitative scoring system, identifying twelve genes with definitive evidence and recommending their inclusion in genetic testing panels.
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