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De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability Syndrome

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Description scientific article published on 18 March 2017
Author/s

author: Joris A Veltman  Marjolein H Willemsen  Christopher J Lord  David FitzPatrick  Deciphering Developmental Disorders Study  Rolph Pfundt  Bert B A de Vries  Lisenka Vissers  Tjitske Kleefstra  Ruth Newbury-Ecob 

Publication date March 18, 2017
Language English
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