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Scientific Reports|February 27, 2023
Nine patients with KCNQ2-related neonatal seizures and functional studies of two missense variantsSuphalak Chokvithaya, Natarin Caengprasath, Aayalida Buasong, et al.The Journal of Rheumatology|June 5, 2013
DcR3 mutations in patients with juvenile-onset systemic lupus erythematosus lead to enhanced lymphocyte proliferationChayanin Chokdeemeeboon, Pramuk Ammarinthnukrowh, Siraprapa Tongkobpetch, et al.Movement Disorders : Official Journal of the Movement Disorder Society|November 23, 2023
Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8Patra Yeetong, Mohamed E Dembélé, Monnat Pongpanich, et al.Nature Communications|July 7, 2016
MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfectaUschi Lindert, Wayne A Cabral, Surasawadee Ausavarat, et al.Pageof 4