Case Report: Novel CNGA3 compound heterozygous variants cause achromatopsia in three patients from a family
| Title | Case Report: Novel CNGA3 compound heterozygous variants cause achromatopsia in three patients from a family |
|---|---|
| Description | This study report a novel missense variant in the cyclic nucleotide-gated channel 3 (CNGA3) gene identified by targeted gene panel sequencing approach in a Chinese family with achromatopsia. |
| Organism | Homo sapiens |
| Data Type | Other Type of Genomic Data |
| Data Accessibility | Open-access |
| BioProject | PRJCA032134 |
| Release Date | 2024-11-11 |
| Submitter | Xingkun Yang (185330128@qq.com) |
| Organization | Foshan maternal and children hospital |
| Submission Date | 2024-11-08 |
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 |
|---|---|---|---|---|---|---|---|
| OMIX007827-01 | FSFY1 | 1 | Other Type of Genomic Data | 16.9 KB | docx | 0 | Unavailable |