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A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course
Sabine Grønborg*, Lotte Risom, Jakob Ek, Karen Bonde Larsen, David Scheie, Yanko Petkov, Vibeke André Larsen, Morten Dunø, Fróði Joensen, Elsebet Østergaard
*Corresponding author af dette arbejde