Pub. Date : 2014 Dec
PMID : 24816653
1 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | It is caused by mutations in the NOTCH3 gene; all causative mutations result in gain or loss of a cysteine residue within the extracellular domain, with exons 3 and 4 reported as hot spot mutational sites. | Cysteine | notch receptor 3 | Homo sapiens |