Bibliographic record
Abstract
See article on page 836 Since the original discovery of the haemochromatosis gene (HFE) in 1996,1 there have been two genetic mutations that have dominated clinical studies. The C282Y mutation (845 G→A) has attracted the most attention as the majority of typical haemochromatosis patients are homozygotes for this mutation. This has increasingly led to the use of genetic testing for the diagnosis of haemochromatosis and in many cases has alleviated the need for liver biopsy. In comparison with most other genetic diseases, it remains a marvel that a single mutation explains most clinical cases. Furthermore, in vitro studies have demonstrated that the C282Y mutation disrupts the normal presentation of the HFE protein on the cell surface.2 The H63D mutation (187 G→C) was described in the original description of the HFE gene but has been relegated to a minor clinical role in comparison with the C282Y mutation. It is more prevalent than the C282Y mutation with approximately one in five of the …
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.000 |
| Science and technology studies | 0.002 | 0.000 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.005 | 0.003 |
| Insufficient payload (model declined to judge) | 0.008 | 0.002 |
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 source (direct Gemma or distilled Codex), 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".