Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. [electronic resource]
Producer: 20200727Description: 623-631 p. digitalISSN:- 1537-6605
- Active Transport, Cell Nucleus
- Alleles
- Animals
- Brain -- abnormalities
- Cell Nucleus -- metabolism
- Child, Preschool
- Dendrites -- metabolism
- Drosophila Proteins -- genetics
- Drosophila melanogaster
- Eye Abnormalities -- genetics
- Female
- Fibroblasts
- Genes, Recessive
- Heart Defects, Congenital -- genetics
- Humans
- Infant
- Infant, Newborn
- Jews -- genetics
- Loss of Function Mutation -- genetics
- Male
- Nuclear Pore Complex Proteins -- deficiency
- Seizures -- metabolism
- Syndrome
- beta Karyopherins -- metabolism
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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