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Record W4415719860 · doi:10.70962/jhi.20250181

A <i>WAS</i> promoter variant underlying Wiskott-Aldrich syndrome in two kindreds

2025· article· en· W4415719860 on OpenAlex

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

fundA Canadian funder is recorded on the work.
no affNo Canadian affiliation: this work is invisible to an affiliation-only frame.
No Canadian affiliation. An affiliation-only frame, the usual design, would never have seen this work. It is one of the works that make the case for inverting the frame.

Bibliographic record

VenueJournal of Human Immunity · 2025
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicCellular Mechanics and Interactions
Canadian institutionsnot available
FundersUniversität ZürichLigue Contre le CancerSchweizerischer Nationalfonds zur Förderung der Wissenschaftlichen ForschungInstitut National Du CancerFondation du SouffleInstitut National de la Santé et de la Recherche MédicaleFondation pour la Recherche MédicaleSociété Française de lutte contre les Cancers et les leucémies de l'Enfant et de l'AdolescentSCOR Corporate Foundation for ScienceRare Disease FoundationSt. Giles FoundationCentre National de la Recherche ScientifiqueRockefeller UniversityFondation Bettencourt SchuellerAgence Nationale de la RechercheHoward Hughes Medical InstituteFédération Enfants Cancers SantéNational Science Foundation
KeywordsGeneMutationIdentification (biology)AlleleFrameshift mutationPhenotype

Abstract

fetched live from OpenAlex

OpenAlex records an abstract for this work, but it could not be fetched just now.

Full frame distilled prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.

metaresearch head score (Codex)0.001
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.233
Threshold uncertainty score0.423

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

Machine scores (provisional)

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.

Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.

Opus teacher head0.021
GPT teacher head0.320
Teacher spread0.299 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it