{"id":"W4412489258","doi":"10.1182/blood.2024027935","title":"A novel cause of type 1 von Willebrand disease: impaired exocytosis of Weibel-Palade bodies due to biallelic <i>MADD</i> variants","year":2025,"lang":"en","type":"article","venue":"Blood","topic":"Platelet Disorders and Treatments","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Discovery Centre","funders":"Erasmus Medisch Centrum; RIKEN; Company of Biologists; Stichting de Drie Lichten","keywords":"Von Willebrand factor; Exocytosis; Secretion; Von Willebrand disease; Rab; Cell biology; Immunology; Hemostasis; Degranulation; Biology; Medicine; Bleeding diathesis; Internal medicine; Platelet; GTPase; Receptor","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":[0.0001626911,0.001048535,0.0003840044,0.0006148035,0.0004210496,0.0003757268,0.0002734747,0.0007765301,0.001584345],"category_scores_gemma":[0.0004924395,0.0001948756,0.0002418546,0.000306665,0.0004092601,0.0002360759,0.0003446934,0.0005448104,0.0001991617],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000198167,"about_ca_system_score_gemma":0.0001213619,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00051851,"about_ca_topic_score_gemma":0.0003390957,"domain_scores_codex":[0.9997984,0.00002312231,0.00002607169,0.00007873466,0.0000405671,0.00003322567],"domain_scores_gemma":[0.9998019,0.00006055159,0.00005645703,0.00001321564,0.00001326019,0.00005464331],"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":[0.001038067,0.0002679739,0.121393,0.0001678946,0.0001450402,0.297996,0.001113998,0.0003773175,0.565941,0.001017826,0.0006158607,0.009926043],"study_design_scores_gemma":[0.00005447411,0.000747053,0.2463371,0.00002394842,0.0001484546,0.676011,0.0002335158,0.001491821,0.07249946,0.0002253225,0.002185653,0.00004217843],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981446,0.0002245058,0.0008665395,0.00005306639,0.000009362254,0.00001463857,0.0001545799,0.00003881202,0.000493792],"genre_scores_gemma":[0.9991865,0.00006790194,0.0004684472,0.00002310569,0.00001380667,0.000004205235,0.000086436,0.000009226991,0.0001404558],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001584345,"threshold_uncertainty_score":0.005300164,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0163985224513464,"score_gpt":0.2621226308817174,"score_spread":0.245724108430371,"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."}}