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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Gene panel diagnostics reveals new pathogenic variants in pulmonary arterial hypertension

Christina A Eichstaedt1,2, Zoe Saßmannshausen3, Memoona Shaukat4

  • 1Center for Pulmonary Hypertension, Thoraxklinik Heidelberg gGmbH at Heidelberg University Hospital, Translational Lung Research Center Heidelberg (TLRC), German Center for Lung Research (DZL), Röntgenstraße 1, 69126, Heidelberg, Germany. christina.eichstaedt@med.uni-heidelberg.de.

Respiratory Research
|March 29, 2022
PubMed
Abstract

Keywords:
Bi-allelic variantsGene panel diagnosticsGenetic testingPulmonary arterial hypertension

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