| Submission | 2024-04-01 Beijing Obstetrics and Gynecology Hospital, Capital Medical University |
| Organism | Homo sapiens |
| Version | GRCh37 |
| BioProject | PRJCA024648 |
| Sample numbers | 1 |
| Abstract | We report a fetus with absence of radius, renal agenesis, right kidney duplication, and single umbilical vein through ultrasound detection. WES was performed in the fetus and a frameshift variant in SALL4 was identified. The variant resulted in the truncation of the SALL4 protein. |
| Data Accessibility: | Controlled access |
| Release date | 2024-03-29 |
| Available data | |
| data submitter: linlithu@163.com | |
| 22S25371236.final.vcf.gz | |
