Identification of biallelic mutations in MCM3AP
| Title | Identification of biallelic mutations in MCM3AP |
|---|---|
| Description | Trio WES identified novel compound heterozygous mutations in MCM3AP in XHY, namely, a paternal variant loss1 (exon1-25) and a maternal splicing variant c.1858+3A>G. We verified by qPCR that XHY's sister XYX carried the same variant. |
| Organism | Homo sapiens |
| Data Type | Other Type of Genomic Data |
| Data Accessibility | Open-access |
| BioProject | PRJCA028892 |
| Release Date | 2024-08-10 |
| Submitter | Chan Liu (liuchanwz@126.com) |
| Organization | Wenzhou Medical University |
| Submission Date | 2024-08-09 |
The data cannot be downloaded as it has not yet been registered in the Human Genetic Resource Management Platform of MOST.
| File ID | File Title | Number/Samples | File Type | File Size | File Suffix | Download Times | Download |
|---|---|---|---|---|---|---|---|
| OMIX007092-01 | XYX MCM3APG gene loss of exons1-25 Validation by qPCR | 1 | Other Type of Genomic Data | 10.4 KB | xlsx | 0 | Unavailable |