Author

N. Ravindra

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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