| Accession |
PRJCA011694 |
| Title |
Identification Pathogenic Abnormal Splicing of BBS1 Causing Bardet-Biedl syndrome Type I (BBS1) Due to Missense Mutation |
| Relevance |
Medical |
| Data types |
image
|
| Organisms |
Homo sapiens
|
| Description |
As a conclusion, we identified the variant BBS1:c.1339G>A as a definite pathogenic mutation resulting aberrant splicing. |
| Sample scope |
Multiisolate |
| Release date |
2022-09-05 |
| Publication |
| PubMed ID |
Article title |
Journal name |
DOI |
Year |
| 35692835
|
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| Grants |
| Agency |
program |
Grant ID |
Grant title |
| No funding support
|
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| Submitter |
Minyue
Dong (dongmy@zju.edu.cn)
|
| Organization |
Women's hospital, School of Medicine, Zhejiang University |
| Submission date |
2022-09-05 |
