{"id":"W2082732734","doi":"10.1038/nm842","title":"Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human","year":2003,"lang":"en","type":"article","venue":"Nature Medicine","topic":"Bone Metabolism and Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":268,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Montréal; Montreal Clinical Research Institute","funders":"California Institute of Technology","keywords":"Biology; Osteopetrosis; Genetics; Locus (genetics); Complementation; Positional cloning; Molecular biology; Gene; Mutation; Mutant","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":[0.0002986048,0.0007721595,0.00057056,0.001282572,0.0002961708,0.0004423627,0.0005619758,0.001170482,0.0050148],"category_scores_gemma":[0.0002869988,0.0005371189,0.0005339277,0.0003918015,0.0008582502,0.000301003,0.0009601,0.0009582092,0.001283007],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004298589,"about_ca_system_score_gemma":0.0003458225,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001411324,"about_ca_topic_score_gemma":0.001830387,"domain_scores_codex":[0.9994842,0.00007500796,0.00006016802,0.0001141427,0.000169194,0.00009726229],"domain_scores_gemma":[0.9993969,0.0001737598,0.0001471602,0.0001052632,0.00002423994,0.0001527495],"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":[0.0002257532,0.00002163714,0.0001562588,0.00002742322,0.00001671871,0.0007327671,0.00002250222,0.00013249,0.9976228,0.0003997386,0.0001069167,0.0005350102],"study_design_scores_gemma":[0.0001727563,0.0004215906,0.00708738,0.00002306213,0.00008960795,0.005374537,0.00009026607,0.00144664,0.9784014,0.0007366757,0.006129414,0.00002670218],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9851694,0.001688754,0.004312271,0.000367466,0.00007042944,0.00007180401,0.00300261,0.0004564243,0.004860898],"genre_scores_gemma":[0.9902422,0.0006882753,0.001404505,0.0001039486,0.00001737931,0.00005344284,0.001365238,0.0002030506,0.005921961],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0050148,"threshold_uncertainty_score":0.0167762,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006772814066189034,"score_gpt":0.2639015064484582,"score_spread":0.2571286923822692,"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."}}