Oct 2026
VPS13C regulates triglyceride homeostasis and adipocyte differentiation.
Antwi‐Boasiako Oteng, A. Doumatey, Ashton F. Oliver et al.
· Human Molecular Genetics · 0 citations
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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