Muir, Alison M <br/><br/>
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.  [electronic resource] 

 -  American journal of human genetics  05 2020 
 - 623-631 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2020.03.009  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Active Transport, Cell Nucleus<br/>Alleles<br/>Animals<br/>Brain--abnormalities<br/>Cell Nucleus--metabolism<br/>Child, Preschool<br/>Dendrites--metabolism<br/>Drosophila Proteins--genetics<br/>Drosophila melanogaster<br/>Eye Abnormalities--genetics<br/>Female<br/>Fibroblasts<br/>Genes, Recessive<br/>Heart Defects, Congenital--genetics<br/>Humans<br/>Infant<br/>Infant, Newborn<br/>Jews--genetics<br/>Loss of Function Mutation--genetics<br/>Male<br/>Nuclear Pore Complex Proteins--deficiency<br/>Seizures--metabolism<br/>Syndrome<br/>beta Karyopherins--metabolism