The progress of phenylalanine hydroxylase gene mutations as well as relationship between genotype and phenotype.
Bibliographic record
Abstract
Phenylketonuria(PKUMIM#261600) is the most common inborn error of amino acid metabolism in many countries.It is transmitted in autosomal-recessive pattern.PKU is caused by deficiency of hepatic enzyme phenylalanine hydroxylase(PAHEC 1.14.16.1)which catalyses the conversion of phenylalanine to tyrosine.Defects in PAH enzyme result in the elevated serum level of phenylalanine and mental retardation.The hyperphenylalaninemia phenotype is highly variable ranging from mild hyperphenylalaninemia(MHP) to the most severe form classic PKU.At present 546 mutative alleles and 659 genotypes were found in the worldwhich catalogued in PAHdb database(http//www.pahdb.mcgill.ca).Although phenotype is closely related to genotype several different patients who carried the same mutations are not consistency as to phenotype.this article collected research accomplishments reported in recent years and detailed the aspects including pah gene characteristics PAH enzyme structure gene mutation as well as the relationship between genotype and phenotype.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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 | 0.001 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.001 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.001 | 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".