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Journal article
Xue, Yuan; Schoser, Benedikt; Rao, Aliz R.; Quadrelli, Roberto; Vaglio, Alicia; Rupp, Verena; Beichler, Christine; Nelson, Stanley F.; Schapacher-Tilp, Gudrun; Windpassinger, Christian und Wilcox, William R.
(2016):
Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death.
In: Circulation-Cardiovascular Genetics, Vol. 9, No. 2: pp. 130-135