Identification of Novel Mutation in EIF2AK3 Gene as a Causal Variant in a Family With Rare Disease
Bibliographic record
Abstract
Wolcott-Rallison syndrome (WRS) is now identified as the most frequent cause of neonatal/early onset diabetes in patients that initiated before 6 months of age. Inheritance pattern of disease is autosomal recessive and most of patients are from populations with frequent consanguineous marriages. WRS is caused by mutations in EIF2AK3 gene which encodes eukaryotic translation initiation factor 2a kinase. Several mutations have been reported in this gene and they are almost non-sense, frameshift, missense, and splice site. Here, we analyzed the EIF2AK3 gene in an Iranian girl suspicious for WRS. Sequencing analysis of the gene identified a homozygous novel non-sense mutation in exon 9 of the gene, Y479X. J Med Cases. 2017;8(3):102-104 doi: https://doi.org/10.14740/jmc2597e
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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 | 0.001 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.002 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.004 | 0.001 |
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".