Pub. Date : 2022 Jan
PMID : 34906452
2 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48. | polyglutamine | TATA-box binding protein | Homo sapiens |
| 2 | PURPOSE: This study aimed to unravel the genetic factors underlying missing heritability in spinocerebellar ataxia type 17 (SCA17) caused by polyglutamine-encoding CAG/CAA repeat expansions in the TBP gene. | polyglutamine | TATA-box binding protein | Homo sapiens |