| Accession | SAMC2408936 |
|---|---|
| Accession in Other Database | GSA-Human: HRS482120 |
| Sample name | F1_proband |
| Title | hyperhomocysteinemia |
| Sample type | Human sample |
| Organism | Homo sapiens |
| Description | hyperhomocysteinemia |
| Attributes | *This sample record contains additional controlled-access information that is avaiable from GSA-Human by requesting study HRA003374 in the GSA-Human system. |
| Release date | 2022-11-04 |
| BioProject Accession | PRJCA012227 |
| Submitter | Liangliang Fan (swfanliangliang@csu.edu.cn) |
| Organization | Central South University |
| Submission date | 2023-06-18 |
| Resource name | Description |
|---|---|
| GSA-Human (1) | - |
| HRA003374 (Controlled Access) | The clinical manifestations and genetic research synergistically confirmed the diagnosis of HHcy clarified the failure of folic acid therapy in the proband caused by doubly bi-allelic variants of MTHFR and MTHFD1 genes. |