A novel EVER1 polymorphism of epidermodysplasia verruciformis: Homozygous TMC6 c.718del
Bibliographic record
Abstract
To the Editor: We recently published an interesting case of a 9-year-old girl with epidermodysplasia verruciformis (EV) titled “Diffuse skin-colored papules in a child” in JAAD Case Reports. Genetic testing had not been completed at the time of publication and we write to discuss these fascinating results. A previously unreported genetic variation was discovered using next generation sequencing and thought to be the most likely pathologic cause of EV in our patient. Specifically, our patient was found to be homozygous in the TMC6 gene (transmembrane channel gene 6) for a sequence variant defined as c.718del, which is predicted to result in a frameshift and premature protein termination (p.Gln240serfs∗76).
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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) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| 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".