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Ultra-Rare Genetic Variation in Relapsing Polychondritis: A Whole-Exome Sequencing Study

OBJECTIVE: Relapsing polychondritis (RP) is a systemic inflammatory disease of unknown etiology. The study objective was to examine the contribution of rare genetic variations in RP. METHODS: We performed a case-control exome-wide rare variant association analysis including 66 unrelated European Ame...

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Detalles Bibliográficos
Autores principales: Luo, Yiming, Ferrada, Marcela A., Sikora, Keith A., Rankin, Cameron, Alessi, Hugh, Kastner, Daniel L., Deng, Zuoming, Zhang, Mengqi, Merkel, Peter A., Kraus, Virginia B., Allen, Andrew S., Grayson, Peter C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10246166/
https://www.ncbi.nlm.nih.gov/pubmed/37292664
http://dx.doi.org/10.1101/2023.04.10.23288250