Open access
Jul 2026
Germline NF2 variant position constrains somatic second hits and determines clinical severity in Neurofibromatosis Type 2-related schwannomatosis
A second-hit modifier to the Mendelian first-hit was identified: severe germline variants were associated with milder somatic variants, and vice versa, which partly explains the variable expressivity in NF2-SWN.
N. Ravindra, David T. Asuzu, Emma C. Celano et al.
· medRxiv · 0 citations