geoopen

Recurrent de novo variants in the spliceosomal factor CRNKL1 cause severe microcephaly and pontocerebellar hypoplasia with seizures [HeLa]

GEO Series GSE294227. Homo sapiens. 4 samples. Type: Expression profiling by high throughput sequencing.

ShareScore

24/100

Overall dataset sharing score

Score breakdown

These five areas show where the dataset supports — or may limit — practical reuse.

Stewardship: 4
Harmonization: 8
Access: 4
Reuse readiness: 0
Engagement: 8

Topics

Homo sapiens Expression profiling by high throughput sequencing GEO gene expression

Dataset details

Repository: geo
Published: April 15, 2025
License: GEO-Open
DOI: geo/GSE294227

Scored with release 0.9.0

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