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Record W188590037 · doi:10.1007/8904_2015_409

Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy

2015· article· en· W188590037 on OpenAlexfundno aff
Irene M. L. W. Körver‐Keularts, Marjolein Visser, H. D. Bakker, Ronald J. A. Wanders, Fleur Vansenne, H.R. Scholte, L. Dorland, Gerry A. F. Nicolaes, L. M. J. Spaapen, Hubert J.M. Smeets, Alexandra T.M. Hendrickx, B.J.C. van den Bosch

Bibliographic record

VenueJIMD Reports · 2015
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicMitochondrial Function and Pathology
Canadian institutionsnot available
FundersH2020 European Research CouncilNational Health and Medical Research CouncilExecutive Agency for Health and ConsumersCanadian Institutes of Health ResearchAssistance publique-Hôpitaux de ParisUniversität ZürichUniversidade de LisboaNational and Kapodistrian University of AthensErasmus Universiteit RotterdamRigshospitaletUniversitair Ziekenhuis AntwerpenMinistero della SaluteNational Institute for Health and Care ResearchFondazione TelethonEuropean CommissionAcademisch Medisch CentrumMedical Research CouncilOspedale Pediatrico Bambino GesùPrincess Margaret Hospital FoundationUniverzita Karlova v PrazeInstitut des maladies génétiques ImagineFeinstein Institutes for Medical ResearchWellcome TrustFondazione Pierfranco e Luisa MarianiIndian National Science Academy
KeywordsMitochondrial myopathyExonExercise intoleranceNonsense mutationCardiomyopathyMyopathyMutationAsymptomaticExternal ophthalmoplegiaGeneticsMuscle weaknessStop codonWeaknessMedicineMitochondrial DNAInternal medicineGeneBiologyHeart failureMissense mutationAnatomy

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 machine prediction

Teacher imitation

Not 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.

metaresearch head score (Codex)0.000
metaresearch head score (Gemma)0.003
Version: metacan-v3-hybrid-931329e0061cValidation status: machine_predicted_unvalidated
Candidate categoriesnone
Consensus categoriesnone
DomainCandidate signal: none · Consensus signal: none
Study designCandidate signal: Case report · Consensus signal: Case report
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.006
Threshold uncertainty score0.008

Distilled classifier scores by category (both heads)

CategoryCodexGemma
Metaresearch0.0000.003
Meta-epidemiology (narrow)0.0030.001
Meta-epidemiology (broad)0.0010.001
Bibliometrics0.0020.001
Science and technology studies0.0020.002
Scholarly communication0.0010.001
Open science0.0020.001
Research integrity0.0060.002
Insufficient payload (model declined to judge)0.0020.001

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.

Opus teacher head0.018
GPT teacher head0.255
Teacher spread0.237 · 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 source (direct Gemma or distilled Codex), not a consensus.

The models applied no category: nothing in the taxonomy fit this work.
Study designCase report
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

Citations35
Published2015
Admission routes1
Has abstractno

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