<i>Genetic Factors in Autoimmune Myasthenia Gravis</i>
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Bibliographic record
Abstract
Autoimmune myasthenia gravis (MG) is a multifactorial disease, markedly influenced by genetic factors, even though it shows limited heritability. The clinically typical form of autoimmune MG with thymus hyperplasia shows the most reproducible genetic associations, especially with the A1-B8-DR3 (8.1) haplotype of the major histocompatibility complex (MHC). However, because of strong linkage disequilibrium, the causative polymorphism in this region is not known yet. Increasing the density of genetic markers has nevertheless recently revealed the complex, but highly significant contribution of this essential genetic region in controlling the disease phenotype and the quantitative expression of serum autoantibodies. The advances of the human genome program, the development of genotyping and sequencing tools with increasing throughput, and the availability of powerful statistical methods now make feasible the dissection of a complex genetic region, such as the MHC and beyond, the systematic search throughout the genome for variants influencing disease predisposition. The identification of such functional variants should provide new clues to the pathogenesis of MG, as recently illustrated by the study of a promoter polymorphism of the CHRNA1 locus, influencing its thymic expression and central tolerance, or of a coding variant of the PTPN22 intracellular phosphatase.
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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) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 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 it