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Brachydactyly Type C patient with compound heterozygosity for p.Gly319Val and p.Ile358Thr variants in the GDF5 proregion: benign variants or mutations?

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author: Mareen Schmidt-von Kegler  Katarina Dathe  Katja Stange  Petra Seemann  Stefan Mundlos 

Publication date May 21, 2015
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