Omics · study · 2026
Clinical Phenotype and Genetic Analysis of a Family with 17q12 Microdeletion Syndrome
Listed in NCBI GEO
To clarify the genetic etiology of a 17q12 microdeletion syndrome fetus in a family and analyze the correlation between the genetic and clinical phenotypes within the family.
Description
The child and her father, who share the same genetic variation, exhibit significant clinical heterogeneity.
Links
Get the data
- GEO FTP directory ftp.ncbi.nlm.nih.gov/geo/series/GSE296nnn/GSE296489 ↗
download · from NCBI GEO
Where it is published
- GEO accession page ncbi.nlm.nih.gov/geo/query/acc.cgi?acc=GSE296489 ↗
landing page · from NCBI GEO
Documentation and papers
- PRJNA1259497 ncbi.nlm.nih.gov/bioproject/PRJNA1259497 ↗
project · from NCBI GEO
Topics
- Stated by source
- Genome variation profiling by SNP array · Homo sapiens · SNP genotyping by SNP array
- From keywords
- Life Sciences
Provenance · 1 source records, 8 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| NCBI GEO | GSE296489 | 12 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| concepts[method].geo_series_type:genome-variation-profiling-by-snp-array | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /gdstype |
| concepts[method].geo_series_type:snp-genotyping-by-snp-array | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /gdstype |
| concepts[organism].NCBITaxon:9606 | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /taxon |
| description | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /summary |
| publication_date | source · NCBI GEO | connector:ncbi_geo@1.0.0 | |
| title | source · NCBI GEO | connector:ncbi_geo@1.0.0 | /title |