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Record W2188749679 · doi:10.1016/j.ajhg.2015.10.014

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type

2015· article· en· W2188749679 on OpenAlexaff
Mala Isrie, Martin W. Breuss, Guoling Tian, Andi H. Hansen, Francesca Cristofoli, Jasmin Morandell, Zachari A. Kupchinsky, Alejandro Sifrim, Celia Maria Rodriguez-Rodriguez, Elena Porta Dapena, Kurston Doonanco, Norma Leonard, Faten Tinsa, Stéphanie Moortgat, Hakan Ulucan, Erkan Koparir, Ender Karaca, Nicholas Katsanis, Joris Vermeesch, Erica E. Davis, Nicholas J. Cowan, David A. Keays, Hilde Van Esch

Bibliographic record

VenueThe American Journal of Human Genetics · 2015
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicGenetic and rare skin diseases.
Canadian institutionsStollery Children's HospitalUniversity of Alberta
FundersNational Institute of General Medical SciencesNational Human Genome Research InstituteNational Institute of Diabetes and Digestive and Kidney DiseasesKU Leuven
KeywordsSkin typeMedicineDermatology

Abstract

fetched live from OpenAlex
No abstract in any covered source. Its absence is recorded, not treated as a negative.

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.

How this classification was reachedexpand

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)0.000
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: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.497
Threshold uncertainty score0.390

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
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 head0.030
GPT teacher head0.313
Teacher spread0.283 · 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

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designObservational
Domainnot available
GenreEmpirical

How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".

Quick stats

Citations89
Published2015
Admission routes1
Has abstractno

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