Data · dataset · 2026
Whole-Exome Sequencing Identifies Biallelic PCDH12 Variants in Two Pedigrees with Neurodevelopmental Abnormalities
Listed in Teesside University Research Data Repository
Genomic DNA was extracted from peripheral blood samples of two Chinese trios with neurodevelopmental disorders.
Description
Sanger sequencing was performed to validate four candidate PCDH12 variants screened by WES. Target fragments covering variant loci were amplified via GC-optimized PCR.
Bidirectional sequencing was carried out with BigDye Terminator v3.1 kit on ABI 3730xl analyzer. Electropherograms were analyzed to confirm compound heterozygous variants and their parental segregation, supporting the pathogenic evaluation of PCDH12 biallelic variants.
Links
Where it is published
- DOI doi.org/10.17632/pjb58p7fs4.1 ↗
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
- Earth & Environmental Science · Engineering · Humanities · Life Sciences · Social Science
- Inferred from text
- Genetics 71% · Sequencing 75%
Provenance · 1 source records, 12 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| Teesside University Research Data Repository | oai:data.mendeley.com/pjb58p7fs4.1 | 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:group:3105 | enrichment · researchdata tees ac uk | taxonomy-embedding@1.0.0 | title+keywords+description (71%) |
| 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 | |
| concepts[modality].local:modality:sequencing | enrichment · researchdata tees ac uk | keyword-concept-rules@1.0.0 | title+description (75%) |
| 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 |