{"id":"W2883619238","doi":"10.1186/s41065-018-0062-8","title":"A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM): the first genetic clinical report in East Asia","year":2018,"lang":"en","type":"article","venue":"Hereditas","topic":"Vascular Malformations and Hemangiomas","field":"Medicine","cited_by":25,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario","funders":"National Natural Science Foundation of China","keywords":"Arteriovenous malformation; Mutation; Biology; East Asia; Gene; China; Genetics; Radiology; Medicine","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":[0.0001549412,0.0007200852,0.0004822563,0.001078674,0.0007339931,0.0005061552,0.0004764641,0.001215664,0.001477776],"category_scores_gemma":[0.001133609,0.0003087004,0.0003129886,0.0006319862,0.0007739976,0.0004868247,0.0006431389,0.0005370633,0.0002897683],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002636467,"about_ca_system_score_gemma":0.0003203227,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001228906,"about_ca_topic_score_gemma":0.001107134,"domain_scores_codex":[0.9997544,0.0000216798,0.00003990835,0.00008793593,0.00003978492,0.00005628768],"domain_scores_gemma":[0.9992698,0.0002142185,0.0001920922,0.00004387866,0.0000638873,0.0002161762],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00004995019,0.00003819824,0.04496374,0.00004910086,0.000021996,0.9401101,0.0005301504,0.0001026026,0.01035533,0.0003603774,0.000240185,0.003178342],"study_design_scores_gemma":[0.000008068911,0.00005892264,0.0196793,0.000009063871,0.00001904543,0.9776956,0.0001294056,0.0001981651,0.001490916,0.0001050218,0.0005968274,0.000009606242],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.995513,0.0006112285,0.0008702271,0.000308313,0.00003668309,0.00002940968,0.00009780778,0.00003720811,0.002496034],"genre_scores_gemma":[0.9986889,0.0002412379,0.000514701,0.000114318,0.00004159273,0.000005852035,0.0000420613,0.00000897773,0.000342448],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001477776,"threshold_uncertainty_score":0.004943669,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03445214010817663,"score_gpt":0.3043077016714353,"score_spread":0.2698555615632587,"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."}}