Data · dataset · 2021
5q13.2 heterozygous deletion (SMN1/SMN2) verified by MLPA
Listed in DataCite
Capillary electrophoresis pattern of a proband A, proband B and their mother (1x SMN1 ; 1x SMN2) analysed with SALSA MLPA probemix P060 SMA Carrier.
Description
The approximately 50% decrease of peaks SMN1-7 ( SMN1 , exon 7), SMN1-8 ( SMN1, exon 8), SMN2-7 ( SMN2, exon7), SMN2-8 ( SMN2 , exon 8) was detected.Capillary electrophoresis pattern of negative control is attached.
Links
Where it is published
- Repository landing page figshare.com/articles/dataset/5q13_2_heterozygous_deletion_SMN1_SMN2_verifi… ↗
landing page · from DataCite
- Repository landing page figshare.com/articles/dataset/5q13_2_heterozygous_deletion_SMN1_SMN2_verifi… ↗
landing page · from DataCite
- DOI doi.org/10.6084/m9.figshare.14423438 ↗
DOI / persistent id · from DataCite
- DOI doi.org/10.6084/m9.figshare.14423438.v1 ↗
DOI / persistent id · from DataCite
Documentation and papers
Catalogue records · 4
- DataCite API api.datacite.org/dois/10.6084/m9.figshare.14423438.v1 ↗
metadata API · from DataCite
- DataCite API api.datacite.org/dois/10.6084/m9.figshare.14423438 ↗
metadata API · from DataCite
- DataCite Commons commons.datacite.org/doi.org/10.6084/m9.figshare.14423438.v1 ↗
catalogue entry · from DataCite
- DataCite Commons commons.datacite.org/doi.org/10.6084/m9.figshare.14423438 ↗
catalogue entry · from DataCite
Topics
- Stated by source
- Basic medicine · Basic medicine · Biological sciences · Biological sciences
- From keywords
- Genetics
Provenance · 2 source records, 12 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| DataCite | 10.6084/m9.figshare.14423438 | 13 d ago | JSON v1 |
| DataCite | 10.6084/m9.figshare.14423438.v1 | 13 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 | |
| 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 |