https://ogg1signaling.com/inde....x.php/pepper-mild-mo
We undertook a retrospective analysis of the University of Alabama at Birmingham (UA dataset, which included 8090 unrelated individuals with verified neurofibromatosis type 1, to investigate the full range of deep intronic NF1 PVs. All variants were identified by observing their influence on the NF1 transcript, a process which was succeeded by variant characterization at the DNA
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