{"id":"W4407294046","doi":"10.1016/j.chest.2024.09.002","title":"Ineffectiveness of Sotatercept Therapy in a Patient With Heritable Pulmonary Arterial Hypertension Associated With a Previously Unreported Missense Variant in GDF2, the Gene for Bone Morphogenic Protein-9","year":2025,"lang":"en","type":"article","venue":"CHEST Journal","topic":"Pulmonary Hypertension Research and Treatments","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Jewish General Hospital","funders":"Acceleron","keywords":"Missense mutation; Bone morphogenetic protein; Medicine; Pulmonary hypertension; Gene; Internal medicine; Genetic enhancement; Cardiology; Genetics; Biology; Mutation","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":[0.000316962,0.0005664228,0.0006935056,0.0007023625,0.0008043944,0.0004230273,0.0004014508,0.002136734,0.0007647601],"category_scores_gemma":[0.001772877,0.0001805733,0.0004036881,0.0002812495,0.0005641994,0.0003497294,0.0002585694,0.001259775,0.0002244247],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006291335,"about_ca_system_score_gemma":0.0005040219,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001283051,"about_ca_topic_score_gemma":0.001908549,"domain_scores_codex":[0.9997337,0.00005028376,0.0000322711,0.00006654556,0.00006431581,0.00005280473],"domain_scores_gemma":[0.9989747,0.000452493,0.0001010259,0.00004126149,0.00006323134,0.00036731],"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":[0.0007629081,0.0003182907,0.03286981,0.00005301711,0.00006334935,0.9345989,0.0003714148,0.0006643633,0.01424691,0.0005560007,0.0009545319,0.01454063],"study_design_scores_gemma":[0.0001673985,0.001944838,0.04996487,0.00004594349,0.0001352228,0.9333566,0.0001829689,0.004275511,0.006452141,0.000634801,0.002795212,0.00004443757],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9877144,0.001384796,0.0009367561,0.004309415,0.0002068006,0.0000393906,0.00008732589,0.00007470205,0.005246514],"genre_scores_gemma":[0.9976999,0.0002364535,0.0003413895,0.001037611,0.0000949167,0.000004488854,0.0000405671,0.000009207343,0.0005355421],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002136734,"threshold_uncertainty_score":0.004564643,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02047838734597082,"score_gpt":0.2567747341862858,"score_spread":0.236296346840315,"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."}}