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Record W2141208833 · doi:10.1038/ejhg.2013.40

Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects

2013· article· en· W2141208833 on OpenAlexaff
Corry M.R. Weemaes, Maarten JD van Tol, Jun Wang, Monique M. van Ostaijen-ten Dam, Marja CJA van Eggermond, Peter Thijssen, Caner Aytekin, Nicola Brunetti‐Pierri, Mirjam van der Burg, E. Graham Davies, Alina Ferster, Dieter Furthner, Giorgio Gimelli, A Gennery, Barbara Kloeckener‐Gruissem, M. Stephen Meyn, Cynthia M. Powell, İsmail Reisli, Catharina Schuetz, Ansgar Schulz, Andrea Shugar, Peter J. van den Elsen, Silvère M. van der Maarel

Bibliographic record

VenueEuropean Journal of Human Genetics · 2013
Typearticle
Languageen
FieldImmunology and Microbiology
TopicImmunodeficiency and Autoimmune Disorders
Canadian institutionsHospital for Sick Children
FundersNational Institute of Allergy and Infectious Diseases
KeywordsDNMT3BImmunodeficiencyDiseaseIncidence (geometry)GeneticsGene mutationPrimary immunodeficiencyBiologyMutationMedicineGenePathologyDNA methylationImmune system

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 machine prediction

Teacher imitation

Not calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.004
Version: metacan-v3-hybrid-931329e0061cValidation 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 score0.005
Threshold uncertainty score0.018

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.004
Meta-epidemiology (narrow)0.0020.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0030.002
Science and technology studies0.0010.001
Scholarly communication0.0010.001
Open science0.0010.001
Research integrity0.0020.001
Insufficient payload (model declined to judge)0.0050.001

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 head0.034
GPT teacher head0.285
Teacher spread0.250 · 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 source (direct Gemma or distilled Codex), 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

Citations142
Published2013
Admission routes1
Has abstractno

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