<i>DEGS1</i> -Related Hypomyelinating Leukodystrophy
Why this work is in the frame
A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.
Bibliographic record
Abstract
Objectives: -related leukodystrophy with phenotypic heterogeneity both within the family and in previously reported individuals. Methods: Four related individuals were followed by the neurology, genetics, and neurometabolic teams with clinical examinations, MRI brain, and genetic/metabolic investigations. Trio exome sequencing (ES) was completed after initial investigations returned normal. Results: , c.110T>C (p.Met37Thr), for the proband with subsequent confirmatory testing of remaining affected family members. While the affected individuals share many similarities, there is notable variability in severity between them as well as with other 33 previously reported individuals, including 2 with the same pathogenic variant. This variability is highlighted in the presence of seizures, nystagmus, failure to thrive, microcephaly, MRI brain findings, and age at disease onset. Discussion: -related leukodystrophy and adds to the current understanding of the phenotypic range of affected individuals. Consideration of variability in the condition's natural history and outcome is key to appropriately counsel patients and families.
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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 | 0.000 |
| 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 it