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Record W3104743366 · doi:10.1161/circgen.120.003123

Novel Gain-of-Function Variant in <i>CACNA1C</i> Associated With Timothy Syndrome, Multiple Accessory Pathways, and Noncompaction Cardiomyopathy

2020· letter· en· W3104743366 on OpenAlex
Ken Kelu Bisabu, Juan Zhao, A. Mokrane, Émilie Segura, Mireille Marsolais, Steffany Grondin, Evelyne Naas, Johannie Gagnon, Julia Cadrin‐Tourigny, Martín Aguilar, François‐Pierre Mongeon, Mario Talajic, Lucie Parent, Rafik Tadros

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.
fundA Canadian funder is recorded on the work.

Bibliographic record

VenueCirculation Genomic and Precision Medicine · 2020
Typeletter
Languageen
FieldMedicine
TopicCardiomyopathy and Myosin Studies
Canadian institutionsUniversité de MontréalMontreal Heart Institute
FundersCanadian Institutes of Health Research
KeywordsMedicineCardiomyopathyCardiologyLeft ventricular noncompactionInternal medicineGain of functionHeart failureGeneticsMutationGene

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.

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 categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Observational · Consensus signal: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.613
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.001
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0020.000
Bibliometrics0.0010.000
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0010.001
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 head0.039
GPT teacher head0.244
Teacher spread0.205 · 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