Identification Pathogenic Abnormal Splicing of BBS1 Causing Bardet-Biedl Syndrome Type I (BBS1) due to Missense Mutation
| Title | Identification Pathogenic Abnormal Splicing of BBS1 Causing Bardet-Biedl Syndrome Type I (BBS1) due to Missense Mutation |
|---|---|
| Description | In this study, we identified the variant BBS1:c.1339G>A as a definite pathogenic mutation resulting aberrant splicing. |
| Organism | Homo sapiens |
| Data Type | Other Type of Image Data |
| Data Accessibility | Open-access |
| BioProject | PRJCA011694 |
| Release Date | 2024-09-27 |
| Submitter | Minyue Dong (dongmy@zju.edu.cn) |
| Organization | Women's hospital, School of Medicine, Zhejiang University |
| Submission Date | 2022-09-05 |
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| File ID | File Title | Number/Samples | File Type | File Size | File Suffix | Download Times | Download |
|---|---|---|---|---|---|---|---|
| OMIX001775-01 | Ultra sound image | 1 | Other Type of Image Data | 4.5 MB | zip | 0 |