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Record W2807668894 · doi:10.1002/ccr3.1595

An <i> <scp>ANKRD</scp> 26 </i> nonsense somatic mutation in a female with epidermodysplasia verruciformis (Tree Man Syndrome)

2018· article· en· W2807668894 on OpenAlex
K. M. Furkan Uddin, Md Robed Amin, Sabbiha Nadia Majumder, Mohammad Abdul Aleem, Atikur Rahaman, Nushrat Jahan Dity, M. D. Abdul Baqui, Hosneara Akter, Muhammad Mizanur Rahman, Marc Woodbury‐Smith, Stephen W. Scherer

Why this work is in the frame

A frame that forgets how it found something cannot be audited. These are the routes that admitted this work.

affAt least one author lists a Canadian institution in the pinned OpenAlex snapshot.
fundA Canadian funder is recorded on the work.

Bibliographic record

VenueClinical Case Reports · 2018
Typearticle
Languageen
FieldMedicine
TopicGenital Health and Disease
Canadian institutionsUniversity of TorontoSickKids FoundationHospital for Sick Children
FundersGovernment of OntarioGenome CanadaOntario GenomicsMohammed Bin Rashid University of Medicine and Health SciencesAl Jalila FoundationOntario Genomics Institute
KeywordsEpidermodysplasia verruciformisNonsense mutationGenodermatosisMedicineSomatic cellNonsenseMalignancyDermatologyGirlGermline mutationMutationHuman papillomavirusGeneGeneticsPathologyInternal medicineBiologyMissense mutation

Abstract

fetched live from OpenAlex

Key Clinical Message Epidermodysplasia verruciformis ( EV ) is an extremely rare hereditary skin disease characterized by an abnormal susceptibility to the human papilloma virus ( HPV ) with an increased risk of cutaneous malignancy. Here we report the first female severe EV case in Bangladesh, a 10‐year‐old girl with a nonsense somatic mutation impacting ANKRD 26 gene.

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.

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)0.001
metaresearch head score (Gemma)0.002
Version: codex-gemma-dda1882f352aValidation 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 score0.184
Threshold uncertainty score0.863

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0010.002
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0010.000
Bibliometrics0.0000.000
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 head0.044
GPT teacher head0.377
Teacher spread0.334 · 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