Reduced Protein Stability of 11 Pathogenic Missense STXBP1/MUNC18-1 Variants and Improved Disease Prediction.
André T, van Berkel AA, Singh G, Abualrous ET, Diwan GD, Schmenger T, Braun L, Malsam J, Toonen RF, Freund C, Russell RB, Verhage M, Söllner TH – 2024
Title
Reduced Protein Stability of 11 Pathogenic Missense STXBP1/MUNC18-1 Variants and Improved Disease Prediction.
Author
André T, van Berkel AA, Singh G, Abualrous ET, Diwan GD, Schmenger T, Braun L, Malsam J, Toonen RF, Freund C, Russell RB, Verhage M, Söllner TH
Publisher
Biol Psychiatry. 2024 Jul 15;96(2):125-136
Date
2024-07
Source(s)
Type
Text
Keywords
- Freund, C.
- severe encephalopathies
- STXBP1/MUNC18-1