RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas

Gavin R. Oliver, Patrick R. Blackburn, Marissa S. Ellingson, Erin Conboy, Filippo Pinto e Vairo, Matthew Webley, Erik Thorland, Matthew Ferber, Els Van Hul, Ilse M. van der Werf, Wim Wuyts, Dusica Babovic-Vuksanovic, Eric W. Klee

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