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Record W2211953486 · doi:10.1016/j.ajhg.2015.11.004

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability

2015· article· en· W2211953486 on OpenAlexafffund
Asbjørg Stray‐Pedersen, Jan-Maarten Cobben, Trine Prescott, Sora Lee, Chunlei Cang, Kimberly Aranda, Sohnee Ahmed, Mariëlle Alders, Thorsten Gerstner, Kathinka Aslaksen, Martine Tétreault, Wen Qin, Taila Hartley, Shalini N. Jhangiani, Donna M. Muzny, Maja Tarailo‐Graovac, Clara van Karnebeek, James R. Lupski, Dejian Ren, Grace Yoon

Bibliographic record

VenueThe American Journal of Human Genetics · 2015
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicIon channel regulation and function
Canadian institutionsChildren's Hospital of Eastern OntarioMcGill UniversityUniversity of TorontoSickKids FoundationMcGill Genome CentreUniversity of British ColumbiaHospital for Sick Children
FundersNational Institute of Neurological Disorders and StrokeNational Human Genome Research InstituteCanadian Institutes of Health Research
KeywordsHypotoniaPsychomotor retardationCompound heterozygosityMissense mutationIon channelEncephalopathyBiologyMutationInternal medicineEndocrinologyMedicineGeneticsGenePathology

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: Observational
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.150
Threshold uncertainty score0.280

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 head0.032
GPT teacher head0.272
Teacher spread0.240 · 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

Citations52
Published2015
Admission routes2
Has abstractno

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