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Jansen, Jos C. et al. The American Journal of Human Genetics.

Jansen, Jos C. et al. The American Journal of Human Genetics. 2016 Feb

Jos Jansen and colleagues present an exome sequencing analysis in a family with siblings affected by abnormal Golgi glycosylation. They identified several causal variations in CCDC115 gene: a homozygous missense mutation, c.92T>C (p.Leu31Ser) and this one was also compound heterozygous in combination with a heterozygous deletion of CCDC115 (in one family) and a homozygous missense mutation, c.31G>T (p.Asp11Tyr).



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