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Record W2133200426 · doi:10.1136/jmg.40.5.352

The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism

2003· letter· en· W2133200426 on OpenAlexaff
Dries Castermans

Bibliographic record

VenueJournal of Medical Genetics · 2003
Typeletter
Languageen
FieldNeuroscience
TopicAutism Spectrum Disorder Research
Canadian institutionsChild, Adolescent and Family Mental Health
FundersVlaamse regeringFonds Wetenschappelijk Onderzoek
KeywordsAutismGeneticsHeritability of autismPositional cloningCandidate geneGenetic linkageGeneBiologyChromosomal translocationPathogenesisTuberous sclerosisDevelopmental disorderPsychologyPhenotypePsychiatryImmunology

Abstract

fetched live from OpenAlex

Figure 2 Predominant neurobeachin gene expression in the central nervous system. (A) Multiple tissue northern blot (Human MTN Blot, Clontech) using a 410 bp probe from exon 58 of the hNbea gene. He(art), Br(ain), Pl(acenta), Lu(ng), Li(ver), Sk(eletal muscle), Ki(dney), Pa(ncreas). (B) In situ hybridisation of an E15 mouse embryo using a 369 bp probe from exon 23 of the mNbea gene.

Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.

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)0.001
metaresearch head score (Gemma)0.001
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesResearch integrity
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Not applicable · Consensus signal: Not applicable
GenreCandidate signal: Commentary · Consensus signal: Commentary
Teacher disagreement score0.281
Threshold uncertainty score0.995

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
Bibliometrics0.0000.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0010.000
Research integrity0.0010.007
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 head0.018
GPT teacher head0.280
Teacher spread0.262 · 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.

Study designNot applicable
Domainnot available
GenreCommentary

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

Citations144
Published2003
Admission routes1
Has abstractyes

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