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A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome

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Description scientific article published on 21 April 2015
Author/s

author: Egle Preiksaitiene  Sonia Mayo  Sandra Monfort  Silvestre Oltra  Francisco Martinez  Carmen Orellana 

Publication date April 21, 2015
Language English
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