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GDF5 is associated with a variety of skeletal malformations due to gain or loss of function mutations

Elisa Degenkolbe, Judith König, J. Zimmer, Maria Walther, Katarina Dathe, Stefan Mundlos, Sandra C. Doelken, Petra Seemann

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Key concepts: Gain of function, Loss function, Function (biology), Mutation, Genetics, Biology, Medicine, Phenotype

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GDF5 is associated with a variety of skeletal malformations due to gain or loss of function mutations — Research Paper | ScholarLens