Pub. Date : 2021 Jul
PMID : 33973672
2 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | A novel GSN variant outside the G2 calcium-binding domain associated with Amyloidosis of the Finnish type. | Calcium | gelsolin | Homo sapiens |
| 2 | This study reports a novel association between the predicted pathogenic GSN:c.1477T>C variant and amyloidosis of the Finnish type, and is the first to provide functional evidence of a pathological GSN variant at a locus distant to the critical G2 calcium-binding region, resulting in the phenotype of amyloidosis of the Finnish type. | Calcium | gelsolin | Homo sapiens |