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Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities

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Description scientific article published on 23 August 2016
Author/s

author: Jenny Taylor  Usha Kini  Samantha J.L. Knight  Alistair T Pagnamenta 

Publication date August 23, 2016
Language English
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