Data · dataset · 2024
VPA genodermatoses
Listed in Teesside University Research Data Repository
The Materials and Methods (Study population, Genetic testing, Bioinformatics analysis, and Variant validation/classification) have bene detailed in the supplementary material.
Description
Supplementary tables: S1: Overview of the genes included in the panel and their associated OMIM phenotype(s) S2: Demographics, panel results, implications, and secondary/carriership findings S3: Molecular characteristics and ACMG criteria of the identified variants S4: Clinical characteristics of the patient cohort S5: Overview of the alternative diagnoses made with the ‘skin panel’ and the respective management implications S6: Negative cases solved with additional genetic testing.
Links
Where it is published
- DOI doi.org/10.17632/pw679mdcsp.1 ↗
DOI / persistent id · from researchdata tees ac uk
Catalogue records · 1
- OAI-PMH record data.mendeley.com/oai?verb=GetRecord&metadataPrefix=oai_dc&identifier=oai%3Adata… ↗
metadata API · from researchdata tees ac uk
Topics
- From keywords
- Dermatology · Earth & Environmental Science · Engineering · Genetics · Humanities · Life Sciences · Social Science
Provenance · 1 source records, 12 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| Teesside University Research Data Repository | oai:data.mendeley.com/pw679mdcsp.1 | 10 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · researchdata tees ac uk | connector:researchdata_tees_ac_uk@1.0.0 | |
| concepts[field].anzsrc:field:320205 | mapping · researchdata tees ac uk | vocabulary-mapper@1.0.0 | keywords['Dermatology'] |
| concepts[field].anzsrc:group:3105 | mapping · researchdata tees ac uk | vocabulary-mapper@1.0.0 | keywords['Genetics'] |
| concepts[field].local:field:earth-environmental | mapping · researchdata tees ac uk | connector:researchdata_tees_ac_uk@1.0.0 | |
| concepts[field].local:field:engineering | mapping · researchdata tees ac uk | connector:researchdata_tees_ac_uk@1.0.0 | |
| concepts[field].local:field:humanities | mapping · researchdata tees ac uk | connector:researchdata_tees_ac_uk@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · researchdata tees ac uk | connector:researchdata_tees_ac_uk@1.0.0 | |
| concepts[field].local:field:social-science | mapping · researchdata tees ac uk | connector:researchdata_tees_ac_uk@1.0.0 | |
| description | source · researchdata tees ac uk | connector:researchdata_tees_ac_uk@1.0.0 | /metadata/dc/description |
| license | source · researchdata tees ac uk | connector:researchdata_tees_ac_uk@1.0.0 | /metadata/dc/rights |
| publication_date | source · researchdata tees ac uk | connector:researchdata_tees_ac_uk@1.0.0 | |
| title | source · researchdata tees ac uk | connector:researchdata_tees_ac_uk@1.0.0 | /metadata/dc/title |