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Paper Details

Identification of C12orf4 as a gene for autosomal recessive intellectual disability.
Clin Genet
11
2017
C12orf4, C12orf4 gene, C12orf4 variants, Gln267fs, ID, Intellectual disability, Leu328Pro, autosomal recessive ID, autosomal recessive intellectual disability, c, c., c.799_1034-429delinsTTATGA, chromosome 12, delayed speech development, neuropsychiatric symptoms, p.Leu328Pro
Author NameAffiliation
Jukka S MoilanenPEDEGO Research Unit and Medical Research Center Oulu, Oulu University Hospital and University of Oulu
Christian GilissenRadboud University Medical Centre
Irma J??rvel??University of Helsinki
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Release 1.2