Analysis of Genotypes and Phenotypes in Chinese Patients With Tuberous Sclerosis Complex Harboring Novel Variants of TSC1 and TSC2 Genes
Sign Up to like & getrecommendations! Published in 2025 at "International Journal of Genomics"
DOI: 10.1155/ijog/6963280
Abstract: Background: This study aimed to assess the pathogenicity of newly identified tuberous sclerosis Complex 1 (TSC1) and TSC2 variants, contributing definitive evidence for the diagnosis of TSC. Methods: A total of 103 TSC patients underwent… read more here.
Keywords: tsc2 genes; variants tsc1; tuberous sclerosis; genetic testing ... See more keywords