{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00003350207,0.00006518595,0.0001120904,0.00001744032,0.000007634044,0.000003785393,0.00007828698,0.00006261165,0.00001174292],"category_scores_gemma":[0.0000231671,0.00005174157,0.00002601392,0.0001153747,0.00003514491,0.000002069298,0.00003687466,0.00003526539,0.000003283244],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000001910671,"about_ca_system_score_gemma":0.00001625421,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000047298,"about_ca_topic_score_gemma":0.0002216603,"domain_scores_codex":[0.999521,0.00003366312,0.0001297779,0.0001586048,0.00005687635,0.0001001246],"domain_scores_gemma":[0.9998507,0.000003239936,0.00003210683,0.00007175858,0.00001428307,0.00002788232],"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":[0.0003673802,0.00008110542,0.1142222,0.00005318428,0.000008869533,0.000007439366,0.00008711276,0.0002742433,0.8669463,0.0000371742,0.0001488525,0.01776613],"study_design_scores_gemma":[0.004894177,0.001939614,0.4214754,0.00009953135,0.000021065,0.000009138998,0.0007678346,0.0005361388,0.5610461,0.0001954983,0.0084336,0.0005818612],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983562,0.000667515,0.0001686411,0.0004123771,0.00001416517,0.00008726039,0.000007788215,0.00000343533,0.0002825987],"genre_scores_gemma":[0.9991755,0.0002953244,0.0001695487,0.0002848002,0.00001986539,0.000008021188,0.00003551402,0.000004828388,0.000006578304],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3072533,"threshold_uncertainty_score":0.210996,"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."}}