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A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

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author: Michel O Steinmetz  Pierre Gönczy  Holger Thiele  Janine Altmüller  Verena Rupp  Peter Nürnberg  Shahid M Baig  Janine Altmüller  Michael R. Speicher  Gudrun Nürnberg 

Publication date June 20, 2014
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