{"id":"W3108378950","doi":"10.3390/genes11121439","title":"Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial Sclerosis","year":2020,"lang":"en","type":"article","venue":"Genes","topic":"Dermatological and Skeletal Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University; Health Sciences Centre","funders":"","keywords":"Exon; Biology; Genetics; Frameshift mutation; Multiplex ligation-dependent probe amplification; Exome sequencing; Tandem exon duplication; Phenotype; Genome; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000165636,0.0006249674,0.0003181936,0.0009337852,0.0003376909,0.0002746693,0.0003979767,0.0009607062,0.00261123],"category_scores_gemma":[0.0006997899,0.0001924116,0.0004230998,0.0003388285,0.0005000476,0.0001707661,0.0005311795,0.0004196901,0.0006827826],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002138148,"about_ca_system_score_gemma":0.000188621,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005278687,"about_ca_topic_score_gemma":0.0007593289,"domain_scores_codex":[0.9997862,0.00003155323,0.00002794757,0.00007227719,0.00004472932,0.00003734759],"domain_scores_gemma":[0.9994417,0.0003013338,0.0001268553,0.00002624892,0.00002490242,0.00007892559],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0007299332,0.0002661504,0.07317534,0.0002161393,0.00009863283,0.612228,0.001406538,0.0009367121,0.2840569,0.0009654112,0.001111569,0.02480864],"study_design_scores_gemma":[0.00009469216,0.0003828984,0.1493673,0.0001326624,0.0001255464,0.7764603,0.0004921953,0.001885483,0.06262908,0.0007086581,0.00766793,0.00005324103],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974591,0.0002692677,0.0007588929,0.0001029359,0.00002519207,0.00001811707,0.0001810355,0.00003404614,0.001151381],"genre_scores_gemma":[0.998266,0.0001205761,0.0007989581,0.00007226445,0.00001714908,0.000008479733,0.0001699102,0.00001209987,0.0005345195],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00261123,"threshold_uncertainty_score":0.008735418,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01987530145346519,"score_gpt":0.2024897013424793,"score_spread":0.1826143998890141,"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."}}