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Ultra-rare genetic variation in relapsing polychondritis: a whole-exome sequencing study

Yiming Luo, Marcela A. Ferrada, Keith A. Sikora, Cameron Rankin, Hugh Alessi, Daniel L. Kastner, Zuoming Deng, Mengqi Zhang, Peter A. Merkel, Virginia B. Kraus, Andrew S. Allen, Peter C. Grayson

2023Annals of the Rheumatic Diseases10 citationsDOIOpen Access PDF

Topics & Concepts

MedicineExome sequencingRelapsing polychondritisGenetic variationGenetic associationExomeInternal medicineGeneGeneticsGenotypePathologyMutationBiologySingle-nucleotide polymorphismOtitis Media and Relapsing PolychondritisImmunodeficiency and Autoimmune DisordersCoagulation, Bradykinin, Polyphosphates, and Angioedema
Ultra-rare genetic variation in relapsing polychondritis: a whole-exome sequencing study | Litcius