Is E148Q a Benign Polymorphism or a Disease-causing Mutation?: Table 1.
Bibliographic record
Abstract
Familial Mediterranean fever (FMF) is an inherited disorder characterized by recurrent episodes of fever accompanied by sterile peritonitis, arthritis, pleuritis, and a typical inflammatory rash termed erysipelas-like erythema. The development of renal amyloidosis type AA is the most devastating manifestation of the disease, and prior to colchicine treatment was a major cause of morbidity and mortality. The disease is very prevalent among North African and Iraqi Jews, Middle Eastern Arabs, Turks, and Armenians, but rare in other populations. FMF is caused by mutations in the MEFV gene, which is composed of 10 exons and encodes a protein of 781 amino acids1,2. To date more than 50 mutations have been identified, most of which are extremely rare (Infevers database, http://fmf.igh.cnrs.fr/infevers). The association between FMF and mutations such as M694V, M694I, and V726A has been clearly established; however, controversy exists as to the role of the amino acid substitution E148Q, where glutamine (Q) …
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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 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| 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".