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Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness

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Description scientific article published on 05 June 2020
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author: Anne Slavotinek  Dina Schneidman-Duhovny  Anita H. Corbett  Sara W. Leung 

Publication date June 5, 2020
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