| Title |
A Synonymous Mutation in the NF1 gene Located at the Non-canonical Splicing Site Leading to Exon 45 Skipping |
| Description |
Synonymous mutations are ordinarily considered to be non-pathogenic due to its limited influence on the composition of the amino acids that consist of the encoded proteins. Nevertheless, the associations between synonymous mutations and abnormal splicing are nowadays increasingly reported. Rarely, some synonymous mutations, located at the non-canonical splicing sites, are observed to damage the splicing process. |
| Organism |
Homo |
| Data Type |
Other Type of Clinical information |
| Data Accessibility |
Open-access |
| BioProject |
PRJCA011481 |
| Release Date |
2024-09-27 |
| Submitter |
Minyue Dong (dongmy@zju.edu.cn) |
| Organization |
Women's hospital, School of Medicine, Zhejiang University |
| Submission Date |
2022-09-03 |