| Accession | SAMC2309791 |
|---|---|
| Accession in Other Database | GSA-Human: HRS442710 |
| Sample name | D2DNA |
| Title | CFAP43 mutation propositus |
| Sample type | Human sample |
| Organism | Homo sapiens |
| Description | propositus |
| Attributes | *This sample record contains additional controlled-access information that is avaiable from GSA-Human by requesting study HRA002987 in the GSA-Human system. |
| Release date | 2024-09-06 |
| BioProject Accession | PRJCA011671 |
| Submitter | Guoning Huang (gnhuang217@sina.com) |
| Organization | Chongqing Health Center for Women and Children |
| Submission date | 2023-06-18 |
| Resource name | Description |
|---|---|
| GSA-Human (1) | - |
| HRA002987 (Controlled Access) | Mutations in CFAP43 are one of the main causative factors of multiple morphological abnormali-ties of the sperm flagella (MMAF) proven so far. We aim to identify the CFAP43 mutations in Chinese patients with MMAF and describe their clinical outcomes of assisted reproductive technology (ART). A total of 30 MMAF patients were recruited and underwent a 22-gene next-generation sequencing panel screening. |