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Against all odds: blended phenotypes of three single-gene defects
Yong Li, Anika Salfelder, Karl Otfried Schwab, Sarah Catharina Grünert, Tanja Velten, Dieter Lütjohann, Pablo Villavicencio-Lorini, Uta Matysiak-Scholze, Bernhard Zabel, Anna Köttgen, Ekkehart Lausch
Eur J Hum Genet. 2016 Aug; 24(9): 1274–1279. Published online 2016 Jan 27. doi: 10.1038/ejhg.2015.285
PMCID:
PMC4989199
AbstractArticlePDF–714K

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