Rafehi, Haloom <br/><br/>
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.  [electronic resource] 

 -  American journal of human genetics  07 2019 
 - 151-165 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.2019.05.016  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Algorithms<br/>Cerebellar Ataxia--etiology<br/>Cohort Studies<br/>Computational Biology--methods<br/>Family<br/>Female<br/>Genomics<br/>Humans<br/>Introns<br/>Male<br/>Microsatellite Repeats<br/>Middle Aged<br/>Polyneuropathies--etiology<br/>Replication Protein C--genetics<br/>Sensation Disorders--etiology<br/>Syndrome<br/>Vestibular Diseases--etiology<br/>Whole Genome Sequencing