Pub. Date : 2020
PMID : 32174879
2 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | In conclusion, our study offered the evidence of intronic pentanucleotide expansions in SAMD12 from a new Chinese BAFME pedigree, which further confirmed the association between this expansion and the pathogenesis of BAFME. | pentanucleotide | benign adult familial myoclonic epilepsy 1 | Homo sapiens |
| 2 | In conclusion, our study offered the evidence of intronic pentanucleotide expansions in SAMD12 from a new Chinese BAFME pedigree, which further confirmed the association between this expansion and the pathogenesis of BAFME. | pentanucleotide | benign adult familial myoclonic epilepsy 1 | Homo sapiens |