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Record W4412224336

Mosaicism for a variant in PTCH1 causing Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome)

2024· article· en· W4412224336 on OpenAlexfundno aff
Inger Norlyk Sheyanth, Mette Sommerlund, Hanne Vinter, Jannie Assenholt, Hans Gjørup, Lone Sunde, Malene Lundsgaard

Bibliographic record

VenueVBN Forskningsportal (Aalborg Universitet) · 2024
Typearticle
Languageen
FieldBiochemistry, Genetics and Molecular Biology
TopicHedgehog Signaling Pathway Studies
Canadian institutionsnot available
FundersInstitute of Infection and ImmunityGenome Institute of SingaporeCentre National de la Recherche ScientifiqueDuke-NUS Medical SchoolLietuvos Mokslo TarybaVetenskapsrådetUniversity of PittsburghUniversity of Hong KongFondazione Bruno KesslerEuskal Herriko UnibertsitateaUniversidad de GranadaZonMwUniversity of MelbourneHelsingin YliopistoUniversity of California, Los AngelesCentro Pfizer-Universidad de Granada-Junta de Andalucía de Genómica e Investigación OncológicVanda PharmaceuticalsSchool of Public Health, University of MichiganSingapore Eye Research InstituteAlbert-Ludwigs-Universität FreiburgEmory UniversityNational University of SingaporeMinistrstvo za Izobraževanje, Znanost in ŠportNarodowym Centrum NaukiEuropean Regional Development FundBundesministerium für Bildung und ForschungUniversitat Pompeu FabraInstitut National de la Santé et de la Recherche MédicaleNational University Health SystemIndian National Science AcademyAgency for Science, Technology and Research
KeywordsNevoid basal-cell carcinoma syndromePTCH1Basal Cell Nevus SyndromeBiologyMedicinePathologyBasal cell carcinomaGeneticsBasal cellGene
DOInot available

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: none
GenreCandidate signal: Empirical · Consensus signal: Empirical
Teacher disagreement score0.425
Threshold uncertainty score1.000

Codex and Gemma teacher scores by category

CategoryCodexGemma
Metaresearch0.0000.000
Meta-epidemiology (narrow)0.0000.000
Meta-epidemiology (broad)0.0000.000
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 head0.009
GPT teacher head0.216
Teacher spread0.207 · 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

Citations0
Published2024
Admission routes1
Has abstractno

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