Data · dataset · 2021
Verification of the GNAI1 gene pathogenic variant (NM_002069.6:c.815A>G)
Listed in DataCite
Data analysis from WES led to the identification of the GNAI1 gene sequence variant, NM_002069.6:c.815A>G, p.(Asp272Gly).
Description
This variant was detected in heterozygous state in probands, but not in their parents. These results were confirmed by Sanger sequencing.
Links
Where it is published
- Repository landing page figshare.com/articles/dataset/Verification_of_the_GNAI1_gene_pathogenic_var… ↗
landing page · from DataCite
- Repository landing page figshare.com/articles/dataset/Verification_of_the_GNAI1_gene_pathogenic_var… ↗
landing page · from DataCite
- DOI doi.org/10.6084/m9.figshare.14401019 ↗
DOI / persistent id · from DataCite
- DOI doi.org/10.6084/m9.figshare.14401019.v1 ↗
DOI / persistent id · from DataCite
Documentation and papers
Catalogue records · 4
- DataCite API api.datacite.org/dois/10.6084/m9.figshare.14401019.v1 ↗
metadata API · from DataCite
- DataCite API api.datacite.org/dois/10.6084/m9.figshare.14401019 ↗
metadata API · from DataCite
- DataCite Commons commons.datacite.org/doi.org/10.6084/m9.figshare.14401019.v1 ↗
catalogue entry · from DataCite
- DataCite Commons commons.datacite.org/doi.org/10.6084/m9.figshare.14401019 ↗
catalogue entry · from DataCite
Topics
- Stated by source
- Basic medicine · Basic medicine · Biological sciences · Biological sciences
- From keywords
- Genetics
- Inferred from text
- Sequencing 75%
Provenance · 2 source records, 13 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| DataCite | 10.6084/m9.figshare.14401019 | 12 d ago | JSON v1 |
| DataCite | 10.6084/m9.figshare.14401019.v1 | 12 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · DataCite | connector:datacite@1.0.0 | /data/attributes/rightsList |
| byte_size | source · DataCite | connector:datacite@1.0.0 | |
| concepts[field].fos:basic-medicine | source · DataCite | connector:datacite@1.0.0 | |
| concepts[field].fos:basic-medicine | source · DataCite | connector:datacite@1.0.0 | |
| concepts[field].fos:biological-sciences | source · DataCite | connector:datacite@1.0.0 | |
| concepts[field].fos:biological-sciences | source · DataCite | connector:datacite@1.0.0 | |
| concepts[modality].local:modality:sequencing | enrichment · DataCite | keyword-concept-rules@1.0.0 | title+description (75%) |
| created_date | source · DataCite | connector:datacite@1.0.0 | |
| description | source · DataCite | connector:datacite@1.0.0 | /data/attributes/descriptions |
| license | source · DataCite | connector:datacite@1.0.0 | /data/attributes/rightsList |
| publication_date | source · DataCite | connector:datacite@1.0.0 | /data/attributes/dates |
| title | source · DataCite | connector:datacite@1.0.0 | /data/attributes/titles/0/title |
| updated_date | source · DataCite | connector:datacite@1.0.0 |