Identification of novel mutations in TSC1 and TSC2 for tuberous sclerosis complex by targeted next-generation sequencing and ACMG guidelines
Autor: | Xinling Meng, Lang He, Wei Ye, Zhao Chen, Hong Jiang |
---|---|
Rok vydání: | 2020 |
Předmět: |
business.industry
Tumor Suppressor Proteins DNA Mutational Analysis MEDLINE High-Throughput Nucleotide Sequencing General Medicine Computational biology medicine.disease Tuberous Sclerosis Complex 1 Protein DNA sequencing Tuberous sclerosis medicine.anatomical_structure Tuberous Sclerosis Mutation Tuberous Sclerosis Complex 2 Protein Pediatrics Perinatology and Child Health medicine Humans Identification (biology) Neurology (clinical) TSC1 TSC2 business |
Zdroj: | Child's Nervous System. 36:1827-1830 |
ISSN: | 1433-0350 0256-7040 |
Databáze: | OpenAIRE |
Externí odkaz: |