Utilization of Whole-Exome Next-Generation Sequencing Variant Read Frequency for Detection of Lesion-Specific, Somatic Loss of Heterozygosity in a Neurofibromatosis Type 1 Cohort with Tibial Pseudarthrosis.
The Journal Of Molecular Diagnostics : Jmd
Margraf, Rebecca L RL; VanSant-Webb, Chad C; Sant, David D; Carey, John J; Hanson, Heather H; D'Astous, Jacques J; Viskochil, Dave D; Stevenson, David A DA; Mao, Rong R
Publication Date: 2017-05
Variant appearance in text: NF1: 3186delA; Lys1062Asnfs*15