Biallelic loss-of-function OBSCN variants predispose individuals to severe, recurrent rhabdomyolysis

Aydin, Halil2022-08-112022-08-1120210960-8966https://www.biorxiv.org/content/10.1101/2021.06.04.447044v1.full.pdfhttp://hdl.handle.net/11727/7310enginfo:eu-repo/semantics/openAccessBiallelic loss-of-function OBSCN variants predispose individuals to severe, recurrent rhabdomyolysisConference Object31Supplement 1000697873700381