{"id":"W2052385316","doi":"10.1086/380314","title":"Mutations in a Gene Encoding a Novel Protein Containing a Phosphotyrosine-Binding Domain Cause Type 2 Cerebral Cavernous Malformations","year":2003,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Vascular Malformations Diagnosis and Treatment","field":"Medicine","cited_by":343,"is_retracted":false,"has_abstract":false,"ca_institutions":"Montreal General Hospital","funders":"National Institute of Neurological Disorders and Stroke","keywords":"Gene; Encoding (memory); Genetics; Mutation; Domain (mathematical analysis); Biology; Cancer research; Neuroscience","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":[0.0002562453,0.001676635,0.0006595998,0.00140596,0.001153289,0.0005682436,0.001225551,0.002710008,0.002410348],"category_scores_gemma":[0.00220723,0.0003655703,0.0007693017,0.0007943427,0.001535679,0.0004264454,0.0006740813,0.001333714,0.0003699739],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006047529,"about_ca_system_score_gemma":0.0008189599,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003709025,"about_ca_topic_score_gemma":0.003091821,"domain_scores_codex":[0.9996867,0.00002945454,0.0000311921,0.00006240231,0.0001217647,0.00006844604],"domain_scores_gemma":[0.998635,0.0007126125,0.0002589288,0.0000497574,0.00007009962,0.0002735989],"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":[0.0005725104,0.0002497683,0.01731486,0.0001052119,0.0001676601,0.758238,0.0007116816,0.001002198,0.2121319,0.002314419,0.001503264,0.005688533],"study_design_scores_gemma":[0.0003615291,0.0005047182,0.08828841,0.00003681365,0.0003256214,0.8038571,0.0004300009,0.006698799,0.09279174,0.001157302,0.00540793,0.0001399508],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.992689,0.0002884431,0.00294741,0.0006307375,0.0002013715,0.00006462432,0.0003244244,0.0001611628,0.002692928],"genre_scores_gemma":[0.9970266,0.00008605214,0.001823227,0.0001371455,0.0001013779,0.00002017352,0.0001436592,0.00004937757,0.0006122818],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003709025,"threshold_uncertainty_score":0.008063436,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02966676428590585,"score_gpt":0.2910721451182213,"score_spread":0.2614053808323155,"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."}}