Prenatal Diagnosis in a Fetus with X-linked Recessive Chondrodysplasia Punctata: Identification and Functional Study of a Novel Missense Mutation in ARSE
Ontology highlight
ABSTRACT:
INSTRUMENT(S): -
ORGANISM(S): Homo Sapiens
SUBMITTER: Center for Medical Genetics, Central South University
PROVIDER: PRJEB46970 | EVA | 2022-05-20
REPOSITORIES: EVA
Dataset's files
| Action | DRS | |||
|---|---|---|---|---|
| 7E1278.indel.vcf.gz | Vcf | |||
| 7E1278.indel.vcf.gz.csi | Vcf | |||
| 7E1278.indel.vcf.gz.tbi | Vcf | |||
| 7E1278.snp.vcf.gz | Vcf | |||
| 7E1278.snp.vcf.gz.csi | Vcf |
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