Novel compound heterozygous variants in NHLRC2 in a patient with FINCA syndrome
Nina N. Brodsky, Oksana Boyarchuk, Tetiana Kovalchuk, Tetyana Hariyan, Andrew J. Rice, Weizhen Ji, Mustafa K. Khokha, Saquib A. Lakhani, C. Lucas
Topics & Concepts
Sanger sequencingGeneticsExome sequencingCompound heterozygosityBiologyAlleleNeurodegenerationGeneDiseaseExomeBioinformaticsMedicineDNA sequencingMutationPathologyPeptidase Inhibition and AnalysisProtease and Inhibitor MechanismsInterstitial Lung Diseases and Idiopathic Pulmonary Fibrosis