Novel CALM3 mutations in pediatric long QT syndrome patients support a CALM3-specific calmodulinopathy
Bibliographic record
Abstract
The long QT syndrome (LQTS) is an inherited cardiac arrhythmia characterized by a prolonged heart rate–corrected QT interval (QTc) on the surface electrocardiogram (ECG). It is associated with syncope and sudden cardiac death from torsades de pointes, and is estimated to affect 1 per 2000 individuals.1 Fifteen genes have been implicated in familial LQTS, most of which encode cardiac ion channels or channel-interacting proteins.2 To date, mutations in the KCNQ1, KCNH2, and SCN5A genes (causing LQTS 1, 2, and 3) have been found in about 70% of cases, while mutations in other genes (LQTS 4–15) are found in only 5%, indicating that for ~25% of cases the genetic cause remains unknown.
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot 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.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
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.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
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".