Rare and low-frequency coding genetic variants contribute to pediatric-onset multiple sclerosis.
Mary K HortonJoan E ShimAmelia D WallaceJennifer S GravesGregory AaenBenjamin M GreenbergSoe MarYolanda WheelerBianca Weinstock-GuttmanAmy WaldmanTeri SchreinerMoses RodriguezJan-Mendelt TillemaTanuja ChitinisLauren KruppT Charles CasperMary R RenselJanace HartHong L QuachDiana L QuachCatherine SchaeferEmmanuelle WaubantLisa F BarcellosPublished in: Multiple sclerosis (Houndmills, Basingstoke, England) (2023)
. These genes would not have been identified by common variant studies, emphasizing the merits of investigating rare genetic variation in complex diseases.