Biochemical genetics
Novel Frameshift Deletion Pathogenic Variant Characterization in Tuberous Sclerosis-2 Using Exome Sequencing and Molecular Dynamics Simulation.
Mahmood Fadaie, Sajjad Biglari, Hassan Vahidnezhad, Mohammad Amin Tabatabaiefar, Atefeh Sohanforooshan Moghaddam, Anis Khalafiyan, Latifeh Onagh, Abdolazim Sarli, Hamid Reza Khorram Khorshid, Emran Esmaeilzadeh
Published: 202510.1007/s10528-025-11269-y
Abstract
Tuberous sclerosis complex (TSC) is a rare genetic disorder with an autosomal dominant inheritance pattern, affecting roughly 1 in 6,000 to 1 in 10,000 live births. The genetic mutations in the TSC1 or TSC2 genes lead to this condition, while TSC2 mu…
Preview only. Read the full abstract at the source