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Record W2908818202 · doi:10.1016/j.bbadis.2019.01.013

Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure

2019· article· en· W2908818202 on OpenAlexafffund
Sandra Pérez‐Torras, Aida Mata-Ventosa, Britt I. Drögemöller, Maja Tarailo‐Graovac, Judith Meijer, Rutger Meinsma, Arno G. van Cruchten, Wim Kulik, Albert Viel-Oliva, Axel Bidon‐Chanal, Colin J.D. Ross, Wyeth W. Wassermann, Clara van Karnebeek, Marçal Pastor‐Anglada, André B. P. Kuilenburg

Bibliographic record

VenueBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · 2019
Typearticle
Languageen
FieldMedicine
TopicAutoimmune and Inflammatory Disorders Research
Canadian institutionsAlberta Children's HospitalUniversity of CalgaryBC Children's HospitalUniversity of British Columbia
FundersMinisterio de Economía y CompetitividadUniversitat de BarcelonaFundación Ramón ArecesMinisterio de Educación, Cultura y DeporteGenome British ColumbiaMichael Smith Health Research BCCanadian Institutes of Health ResearchGenome Canada
KeywordsBiologyPyrimidine metabolismInborn error of metabolismExome sequencingBiochemistryPhenotypeGeneticsGeneEnzyme

Abstract

fetched live from OpenAlex
No abstract in any covered source. Its absence is recorded, not treated as a negative.

No abstract. This is not a gap in this database; OpenAlex has none either. 23.3% of the frame is in this state, and the screen finds HALF as much metaresearch here, so the absence is a measured bias rather than a missing field.

How this classification was reachedexpand

Full frame distilled prediction

Teacher imitation

Not 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.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.000
Version: codex-gemma-dda1882f352aValidation status: machine_predicted_unvalidated
Candidate categoriesMeta-epidemiology (narrow)
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Bench or experimental · Consensus signal: Bench or experimental
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.227
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.001
Science and technology studies0.0000.000
Scholarly communication0.0000.000
Open science0.0000.000
Research integrity0.0000.000
Insufficient payload (model declined to judge)0.0000.000

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.

Opus teacher head0.015
GPT teacher head0.266
Teacher spread0.251 · how far apart the two teachers sit on this one work
Validation statusscore_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from it

Classification

machine, unvalidated

Machine predicted; a candidate call from one teacher head, not a consensus.

Study designBench or experimental
Domainnot available
GenreEmpirical

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".

Quick stats

Citations8
Published2019
Admission routes2
Has abstractno

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