Presenter Status
Fellow
Abstract Type
Case report
Primary Mentor
Midhat Farooqi
Start Date
13-5-2019 11:30 AM
End Date
13-5-2019 1:30 PM
Presentation Type
Poster Presentation
Included in
Genetics Commons, Genomics Commons, Laboratory and Basic Science Research Commons, Molecular Genetics Commons, Pediatrics Commons
May 13th, 11:30 AM
May 13th, 1:30 PM
A discrepancy between the human reference genome (GRCh37) and transcriptome (RefSeq) results in the incorrect annotation of a clinically-relevant sequence variant in RECQL4
