{"id":"W3212640215","doi":"10.1111/jth.15584","title":"Rare missense variants in Tropomyosin‐4 (TPM4) are associated with platelet dysfunction, cytoskeletal defects, and excessive bleeding","year":2021,"lang":"en","type":"article","venue":"Journal of Thrombosis and Haemostasis","topic":"Platelet Disorders and Treatments","field":"Medicine","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"University of Bristol; Newcastle upon Tyne Hospitals NHS Foundation Trust; University College London; University of Nottingham; National Institute for Health and Care Research; University Hospitals Coventry and Warwickshire NHS Trust; Hospital for Sick Children; British Heart Foundation; Wellcome Trust","keywords":"Platelet disorder; Missense mutation; Platelet; Genetic testing; Candidate gene; Blood Platelet Disorders; Platelet activation; Medicine; Bernard–Soulier syndrome; Mean platelet volume; Genetics; Bioinformatics; Biology; Gene; Internal medicine; Mutation; Platelet aggregation","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001685709,0.001154105,0.0003450411,0.001119606,0.0004678504,0.0003845611,0.000489668,0.001038288,0.001904557],"category_scores_gemma":[0.0009706352,0.0002403251,0.0004326897,0.0006614364,0.0006276688,0.0001963217,0.0004407951,0.0005167983,0.0002368059],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002867863,"about_ca_system_score_gemma":0.0002021393,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009896118,"about_ca_topic_score_gemma":0.0009247661,"domain_scores_codex":[0.9997061,0.00003287851,0.00003895152,0.00009816216,0.00007540017,0.00004842253],"domain_scores_gemma":[0.9994337,0.000165263,0.0002491938,0.00003024662,0.00003908504,0.00008244466],"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":[0.0006848089,0.00007571144,0.3244499,0.0001771384,0.0002738731,0.5349264,0.0005978998,0.0006940431,0.1219264,0.0006992777,0.001070304,0.01442416],"study_design_scores_gemma":[0.00003960562,0.0002159007,0.204061,0.00004249136,0.0001918328,0.7780258,0.0001755717,0.0008577824,0.01457931,0.0004356081,0.001351197,0.00002384604],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972934,0.0005374824,0.0008669044,0.0001547371,0.00001741193,0.00001333108,0.0001539911,0.00004405729,0.0009187281],"genre_scores_gemma":[0.999084,0.000147842,0.0004368736,0.0000426761,0.00003693119,0.000003622839,0.00008715127,0.000008809793,0.0001520988],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001904557,"threshold_uncertainty_score":0.006371319,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02901120560883469,"score_gpt":0.2770183518047679,"score_spread":0.2480071461959332,"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."}}