← Search

Data · dataset · 2025

Novel variants in STAG2 and PKD1 associate with multiple congenital malformations and autosomal dominant polycystic kidney disease in a Chinese family-1

Listed in Teesside University Research Data Repository

Trio whole-exome sequencing (Trio-WES) was performed on a Chinese family to investigate the genetic etiology of the proband’s multiple congenital malformations and familial PKD.

Links

Where it is published

Catalogue records · 1

Topics

From keywords
Earth & Environmental Science · Genetics · Life Sciences
Inferred from text
Disease 75% · Sequencing 75%
Provenance · 1 source records, 10 field assertions
SourceKeyLast seenRaw
Teesside University Research Data Repositoryoai:data.mendeley.com/sx3c492n72.116 h agoJSON v1
FieldAssertionExtractorEvidence
access_levelsource · researchdata tees ac ukconnector:researchdata_tees_ac_uk@1.0.0
concepts[disease].local:disease:diseaseenrichment · researchdata tees ac ukkeyword-concept-rules@1.0.0title+description (75%)
concepts[field].anzsrc:group:3105mapping · researchdata tees ac ukvocabulary-mapper@1.0.0keywords['Genetics']
concepts[field].local:field:earth-environmentalmapping · researchdata tees ac ukconnector:researchdata_tees_ac_uk@1.0.0
concepts[field].local:field:life-sciencesmapping · researchdata tees ac ukconnector:researchdata_tees_ac_uk@1.0.0
concepts[modality].local:modality:sequencingenrichment · researchdata tees ac ukkeyword-concept-rules@1.0.0title+description (75%)
descriptionsource · researchdata tees ac ukconnector:researchdata_tees_ac_uk@1.0.0/metadata/dc/description
licensesource · researchdata tees ac ukconnector:researchdata_tees_ac_uk@1.0.0/metadata/dc/rights
publication_datesource · researchdata tees ac ukconnector:researchdata_tees_ac_uk@1.0.0
titlesource · researchdata tees ac ukconnector:researchdata_tees_ac_uk@1.0.0/metadata/dc/title