Title : A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.

Pub. Date : 2020 Apr

PMID : 31980905






1 Functional Relationships(s)
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1 In the course of diagnosing Marfan syndrome and related disorders, we identified nine sporadic probands (aged 2-47 years) carrying three different likely pathogenic or pathogenic variants in the SKI gene affecting the same amino acid (Thr180). peptide T amide SKI proto-oncogene Homo sapiens