{"id":"W2074367129","doi":"10.1359/jbmr.040407","title":"Severe Malignant Osteopetrosis Caused by a <i>GL</i> Gene Mutation","year":2004,"lang":"en","type":"article","venue":"Journal of Bone and Mineral Research","topic":"Bone Metabolism and Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":55,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Clinical Research Institute","funders":"Army Research Office; Canadian Institutes of Health Research; Ministero dell’Istruzione, dell’Università e della Ricerca","keywords":"Osteopetrosis; Hepatosplenomegaly; TCIRG1; Osteosclerosis; Pathology; Bone marrow; Osteochondrodysplasia; Medicine; Gene mutation; Mutation; Biology; Gene; Disease; Immunology; Genetics; Immune system","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001126064,0.0009935063,0.0004511517,0.0003992744,0.0003031239,0.0002087798,0.0002093756,0.0006401303,0.001561386],"category_scores_gemma":[0.0003395772,0.0001741967,0.0002817675,0.0001720701,0.0005871324,0.0001564978,0.0005486782,0.0005092521,0.0004313273],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002452918,"about_ca_system_score_gemma":0.0001716359,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007030459,"about_ca_topic_score_gemma":0.0008638186,"domain_scores_codex":[0.9998723,0.00002310228,0.00001042921,0.00002550514,0.00003684356,0.00003183843],"domain_scores_gemma":[0.9998245,0.00003545971,0.00006637002,0.00000836087,0.00001043683,0.00005485177],"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":[0.0004598657,0.0000735783,0.01248615,0.0002438637,0.00006650372,0.5572626,0.0004897594,0.0004056352,0.4156193,0.0007797084,0.001865699,0.0102473],"study_design_scores_gemma":[0.0001288326,0.0008964547,0.0646139,0.00003617908,0.0001122358,0.8614897,0.0001407159,0.0008292773,0.06049245,0.000535001,0.01068154,0.00004376354],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9924358,0.001014672,0.001850589,0.0003558515,0.00004232829,0.00004759179,0.0004271542,0.0002531205,0.003572933],"genre_scores_gemma":[0.9974905,0.0003528275,0.0006452771,0.0001088169,0.00003971573,0.000009549792,0.0002457433,0.00003161894,0.001075877],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001561386,"threshold_uncertainty_score":0.005223334,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02095832111464,"score_gpt":0.3042869555758397,"score_spread":0.2833286344611997,"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."}}