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Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome.

Kaasinen E, Rahikkala E, Koivunen P, Miettinen S, Wamelink MM, Aavikko M, Palin K, Myllyharju J,Moilanen JS, Pajunen L, Karhu A, Aaltonen LA.

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