p.P1379S, a benign variant with reduced ATP7B protein level in Wilson Disease.

Yi, Fan; Poskanzer, Sheri A; Myers, Candace T; Thies, Jenny; Collins, Christopher J; Dayuha, Remwilyn; Duong, Phi; Houwen, Roderick; Hahn, Si Houn.

Affiliation

Yi F; Seattle Children's Research Institute Seattle Washington USA.
Poskanzer SA; Department of Pediatrics University of Washington, School of Medicine Seattle Washington USA.
Myers CT; Department of Laboratories Seattle Children's Hospital Seattle Washington USA.
Thies J; Biochemical Genetics Seattle Children's Hospital Seattle Washington USA.
Collins CJ; Seattle Children's Research Institute Seattle Washington USA.
Dayuha R; Seattle Children's Research Institute Seattle Washington USA.
Duong P; Seattle Children's Research Institute Seattle Washington USA.
Houwen R; Wilhelmina Children's Hospital, Utrecht University Utrecht Netherlands.
Hahn SH; Seattle Children's Research Institute Seattle Washington USA.