Milev, Miroslav P <br/><br/>
Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.  [electronic resource] 

 -  Scientific reports  Oct 2019 
 - 14036 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>2045-2322 
<br/><br/><label>Standard No.: </label>10.1038/s41598-019-50415-6  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Brain--diagnostic imaging<br/>Child, Preschool<br/>Female<br/>Gene Frequency<br/>Genetic Diseases, Inborn--genetics<br/>Genetic Variation--genetics<br/>Humans<br/>Infant<br/>Magnetic Resonance Imaging<br/>Male<br/>Muscle Hypotonia--genetics<br/>Muscle, Skeletal--pathology<br/>Vesicular Transport Proteins--chemistry