{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005678975,0.00008723122,0.0001687002,0.0001026207,0.00008742767,0.0000503597,0.00007294201,0.00007568609,0.00001025552],"category_scores_gemma":[0.000179728,0.00006747704,0.00008126481,0.0001183416,0.00008324707,0.00001315986,0.00006516978,0.000139913,0.000003317585],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001440224,"about_ca_system_score_gemma":0.0002007719,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007774111,"about_ca_topic_score_gemma":0.00002434801,"domain_scores_codex":[0.9989145,0.0000823576,0.0002603486,0.0001453306,0.0003564687,0.0002410185],"domain_scores_gemma":[0.999257,0.00001454236,0.00008980475,0.0001175881,0.0003215695,0.0001995176],"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":[0.0002171079,0.0001053868,0.0004758397,0.00001664072,0.00003104963,0.00008283781,0.00004737392,0.00001980212,0.980084,0.00002882627,0.0170947,0.001796452],"study_design_scores_gemma":[0.007517095,0.002588513,0.01658572,0.0001026706,0.00009469992,0.001024522,0.0005443288,0.000006399951,0.8900602,0.0008654848,0.08022626,0.0003841408],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9870122,0.01179541,0.0001208238,0.0006973006,0.00005388861,0.00007290439,0.00003265982,0.00000157227,0.0002132084],"genre_scores_gemma":[0.9956395,0.002239629,0.0004062121,0.0002019472,0.000270235,0.000003893927,0.00003060606,0.00001207765,0.00119589],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.09002382,"threshold_uncertainty_score":0.2751634,"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."}}