{"id":"W2737738777","doi":"10.1534/g3.117.1124","title":"A Large Deletion in the <i>NSDHL</i> Gene in Labrador Retrievers with a Congenital Cornification Disorder","year":2017,"lang":"en","type":"article","venue":"G3 Genes Genomes Genetics","topic":"Genetic and rare skin diseases.","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"University of Bern","keywords":"Biology; Genetics; Exon; Gene; Daughter; Candidate gene; Phenotype; Chromosome; Genetic heterogeneity; Molecular biology","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002245075,0.0008280713,0.00038793,0.001114001,0.0003094592,0.0003005355,0.0004530349,0.0007821237,0.002076631],"category_scores_gemma":[0.0004697783,0.0002371473,0.0004610285,0.0003900006,0.0006307049,0.0001609703,0.0003631406,0.0003339025,0.0004436964],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000279571,"about_ca_system_score_gemma":0.0001071094,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002262256,"about_ca_topic_score_gemma":0.001961371,"domain_scores_codex":[0.9997141,0.00003121994,0.00003821629,0.00009770948,0.00006440852,0.00005440411],"domain_scores_gemma":[0.9997274,0.00005200989,0.000134518,0.00001822758,0.00001520757,0.00005254264],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001178548,0.0003437041,0.0795205,0.0001530115,0.0003278125,0.1462306,0.001351245,0.0004895733,0.7573183,0.0004575996,0.0004424605,0.01218676],"study_design_scores_gemma":[0.0001343706,0.00169838,0.6612486,0.00008168942,0.0003586955,0.2611165,0.0006344042,0.001757568,0.06773981,0.0001472154,0.005002457,0.00008038775],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990379,0.0001333395,0.000289368,0.00003120912,0.000005894145,0.000009341474,0.0001413781,0.00003401214,0.0003176734],"genre_scores_gemma":[0.9989018,0.00007724555,0.0003190616,0.00003217163,0.00001214496,0.000004097793,0.0001854642,0.00002007352,0.0004479118],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002262256,"threshold_uncertainty_score":0.006946981,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007738014817601698,"score_gpt":0.2338200160277674,"score_spread":0.2260820012101657,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}