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Record W2066534789 · doi:10.1038/ng.777

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome

2011· article· en· W2066534789 on OpenAlexafffund
Duane L. Guernsey, Makoto Matsuoka, Haiyan Jiang, Susan Evans, Christine Macgillivray, Mathew Nightingale, Scott Perry, Meghan Ferguson, Marissa A. LeBlanc, Jean Paquette, Lysanne Patry, Andrea L. Rideout, Aidan Thomas, Andrew Orr, Christopher R. McMaster, Jacques L. Michaud, Cheri Deal, Sylvie Langlois, Duane Superneau, Sandhya Parkash, Mark D. Ludman, David Skidmore, Mark E. Samuels

Bibliographic record

VenueNature Genetics · 2011
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicCongenital limb and hand anomalies
Canadian institutionsUniversity of British ColumbiaUniversité de MontréalIzaak Walton Killam Health CentreDalhousie University
FundersCanadian Institutes of Health Research
KeywordsBiologyGeneticsMissense mutationGeneGermline mutationShort statureGenetic heterogeneityExonMutationPhenotype

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: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.334
Threshold uncertainty score0.655

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 head0.040
GPT teacher head0.275
Teacher spread0.235 · 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 designBench or experimental
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

Citations171
Published2011
Admission routes2
Has abstractno

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