A novel large deletion and three polymorphisms in the FECH gene associated with erythropoietic protoporphyria
Bibliographic record
Abstract
BACKGROUND: Erythropoietic protoporphyria (EPP) is known to be inherited in both autosomal dominant and recessive manners. A deleterious mutation in conjunction with a polymorphic wild type allele underlies the molecular basis of the dominant type. METHODS: We report a patient with EPP who was found to have a novel large deletion [c.1-9628_67+2871del12566 bp] and three polymorphisms [c.1-251A>G, c.68-23C>T and c.315-48T>C] in trans to the deletion in his ferrochelatase (FECH) gene. RESULTS: The combination of the deletion and the polymorphisms reduced his FECH activity level to 20% of control. CONCLUSIONS: It is conceivable that a homozygous state for this polymorphic haplotype might be sufficient to produce clinical phenotype of EPP. The boundary between autosomal dominant and autosomal recessive inheritance may not always be distinct.
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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 | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 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 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".