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

Yiming Luo Marcela A FerradaKeith A SikoraCameron RankinHugh D AlessiDaniel L KastnerZuoming DengMengqi ZhangPeter A MerkelVirginia Byers KrausAndrew S AllenPeter C Grayson

Published in: Annals of the rheumatic diseases (2023)

gene as a putative genetic risk factor for RP. These findings should be validated in additional patients with RP and supported by future functional experiments.

Keyphrases

genome wide
multiple sclerosis
copy number
high resolution
gene expression
disease activity
genome wide identification