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Journal Article
Storbeck, Markus, Eriksen, Beate Horsberg, Unger, Andreas, Hoelker, Irmgard, Aukrust, Ingvild, Martinez-Carrera, Lilian A., Linke, Wolfgang A., Ferbert, Andreas, Heller, Raoul, Vorgerd, Matthias, Houge, Gunnar and Wirth, Brunhilde 
ORCID: 0000-0003-4051-5191
(2017).
Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features.
Eur. J. Hum. Genet., 25 (9).
S. 1040 - 1049.
LONDON:
NATURE PUBLISHING GROUP.
ISSN 1476-5438