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Elsevier, Molecular Genetics and Metabolism, 3(113), p. 230-235

DOI: 10.1016/j.ymgme.2014.09.001

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Novel pathogenic COL11A1/COL11A2 variants in Stickler syndrome detected by targeted NGS and exome sequencing

Journal article published in 2014 by Frederic R. Acke ORCID, R. Frederic Acke, Fransiska Malfait, Olivier M. Vanakker, Wouter Steyaert, Kim De Leeneer, Geert Mortier ORCID, Ingeborg Dhooge, Anne De Paepe ORCID, Els M. R. De Leenheer ORCID, Paul J. Coucke
This paper is available in a repository.
This paper is available in a repository.

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