HIGHLIGHTS
- who: Lauren G. Mascibroda from the Clinical work The index cases of the Jordanian family were initially diagnosed at the National Center for Diabetes, Endocrinology and Genetics in Jordan by ProfHanan Hamamy. Clinical assessments were undertaken at different clinics at the University hospital of Jordan. Saliva samples were have published the Article: INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex, in the Journal: (JOURNAL) of 19/07/2020
- what: Altogether, the authors show that mutations in INTS13 cause an autosomal recessive ciliopathy, which reveals key interactions between components of the . . .
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