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De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
Why is this work in the frame?
A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.
Canadian affiliationAn author listed a Canadian institution. This is the only route the usual frame has.
Canadian funderA Canadian agency funded it. The work may carry no Canadian affiliation at all.
Machine scores (provisional)
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Opus teacher head0.006
GPT teacher head0.253
- Teacher spread
- 0.247 · how far apart the two teachers sit on this one work
- Validation status
score_only:v0-immature-baseline· verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it
Abstract
No abstract. This is not a gap in this database — OpenAlex has none either. 23.3% of the frame is in this state, and the screen finds HALF as much metaresearch here, so the absence is a measured bias rather than a missing field.
The record
- Venue
- Nature Genetics
- Topic
- Genetic and Kidney Cyst Diseases
- Field
- Biochemistry, Genetics and Molecular Biology
- Canadian institutions
- Ottawa HospitalNorth York General HospitalHospital for Sick ChildrenUniversity of British ColumbiaMcGill University and Génome Québec Innovation CentreUniversity of OttawaQueen's UniversityMcGill UniversityUniversity of CalgaryChildren's Hospital of Eastern Ontario
- Funders
- Eunice Kennedy Shriver National Institute of Child Health and Human DevelopmentNational Center for Advancing Translational SciencesMcGill UniversityNational Heart, Lung, and Blood InstituteNational Institute of Environmental Health SciencesCanadian Institutes of Health ResearchNational Institute of Neurological Disorders and StrokeNational Institute of General Medical SciencesCancer Research UK
- Keywords
- MegalencephalyBiologyPolymicrogyriaExome sequencingGeneticsPolydactylyContext (archaeology)Sanger sequencingExomeMutationGeneNeuroscienceEpilepsy
- Has abstract in OpenAlex
- no