https://unc0379inhibitor.com/r....egulating-surgery-in
A retrospective analysis of the spectrum of deep intronic NF1 PVs was conducted on a cohort of 8090 unrelated individuals from the University of Alabama at Birmingham (UA dataset, all with molecularly confirmed neurofibromatosis type 1. All variants were identified by observing their influence on the NF1 transcript, a process which was succeeded by variant characterization at the DNA sequen