{"id":"W4293171087","doi":"10.1002/ccr3.6269","title":"Protein S gene mutation c.<scp>946C</scp> &gt; T (p.<scp>R316C</scp>) contributed to ischemic stroke in a man with von Willebrand disease type 3 caused by two novel <scp>VWF</scp> gene mutations, c.<scp>2328delT</scp> (p.<scp>A778Lfs</scp>* 23) and c.<scp>6521G</scp> &gt; T (p.<scp>C2174F</scp>)","year":2022,"lang":"en","type":"article","venue":"Clinical Case Reports","topic":"Platelet Disorders and Treatments","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Foothills Medical Centre; University of Calgary","funders":"National Natural Science Foundation of China","keywords":"Medicine; Mutation; Ischemic stroke; Gene; Von Willebrand factor; Stroke (engine); Disease; Von Willebrand disease; Molecular biology; Genetics; Immunology; Internal medicine; Ischemia; Biology; Platelet","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":[0.0002222809,0.001153779,0.0005054156,0.001069285,0.0007288307,0.0003402559,0.0004167652,0.001658167,0.003232514],"category_scores_gemma":[0.0008899673,0.0002584688,0.0009939257,0.0005752973,0.0006942195,0.0001669134,0.0002667634,0.0007009118,0.0006751086],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003974243,"about_ca_system_score_gemma":0.0004350546,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003720952,"about_ca_topic_score_gemma":0.002126026,"domain_scores_codex":[0.9997007,0.00006029986,0.00003940294,0.00008416106,0.00006015558,0.00005522808],"domain_scores_gemma":[0.9995155,0.0001903647,0.00009975574,0.00002176012,0.00005633593,0.0001162906],"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":[0.001039046,0.0004166295,0.07705946,0.0001370523,0.000218424,0.8238627,0.0007822847,0.001150264,0.08056744,0.000866023,0.002426201,0.01147446],"study_design_scores_gemma":[0.0003098083,0.001490355,0.2102888,0.0001700933,0.0007077449,0.7146172,0.0004181924,0.005423983,0.05565852,0.0009365998,0.009834563,0.0001441919],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9950073,0.0003492312,0.001007887,0.0005361675,0.000110284,0.00009541934,0.0005613143,0.00004354988,0.002288943],"genre_scores_gemma":[0.9976327,0.0001188365,0.0006441934,0.0002170673,0.00008167802,0.00001582116,0.0001977821,0.00001726748,0.001074473],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003720952,"threshold_uncertainty_score":0.01081383,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01952708707707531,"score_gpt":0.2958790940487381,"score_spread":0.2763520069716628,"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."}}