| Accession | SAMC3759122 |
|---|---|
| Accession in Other Database | GSA-Human: HRS1260595 |
| Sample name | Human blood1 |
| Title | HB1 |
| Sample type | Human sample |
| Organism | Homo sapiens |
| Description | EDTA Anticoagulation |
| Attributes | *Only part of the sample information is displayed on this page because the related dataset HRA007508 has not yet been registered in the Human Genetic Resource Management Platform of MOST. |
| Release date | 2024-05-24 |
| BioProject Accession | PRJCA026235 |
| Submitter | Hongyao Huang (hhy731120hb@sina.com) |
| Organization | Suizhou Central Hospital affiliated to Hubei University of Medicine |
| Submission date | 2024-05-25 |
| Resource name | Description |
|---|---|
| GSA-Human (1) | - |
| HRA007508 (Open Access) | This study reported two homozygous adjacent missense mutations in the DYSF gene, presenting clinically with bilateral lower limb weakness and calf swelling. Two homozygous adjacent missense mutations in the DYSF gene may be associated with the development of Dysferlinopathy, but the exact mechanism needs to be further investigated. |