Identification of a novel MYH9‐related disease‐associated mutation with multiple faintly staining Döhle‐like bodies
Bibliographic record
Abstract
Identification of a novel MYH9-related disease-associated mutation with multiple faintly staining Dhle-like bodiesTo the Editor: MYH9-related disease (MYH9-RD) is an autosomal dominant genetic disorder characterized by mutations in the MYH9 gene that results in thrombocytopenia, platelet macrocytosis, and functional abnormalities, as well as the formation of Dhle-like inclusions composed of MYH9 protein aggregates in the cytoplasm of neutrophils. [1][2][3][4] Many patients with MYH9-RD also develop extrahematologic features including sensorineural hearing loss, renal disease, and presenile cataracts. 5MYH9 is a 106 kbp gene located on chromosome 22q12.3that encodes the nonmuscle myosin heavy chain IIA (NMMHCIIA). 6,7MHCIIA is a 1960 amino acid polypeptide composed of a Nterminal head, which includes the myosin head domain and a SH3-like domain, a neck region, and a long C-terminal tail domain (reviewed in
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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 | 0.001 | 0.001 |
| 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".