{"id":"W3054225135","doi":"10.1016/j.bone.2020.115601","title":"A homozygous variant in the Lamin B receptor gene LBR results in a non-lethal skeletal dysplasia without Pelger-Huët anomaly","year":2020,"lang":"en","type":"article","venue":"Bone","topic":"Nuclear Structure and Function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":false,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; McGill University Health Centre; Université de Montréal","funders":"Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research","keywords":"Dysplasia; Missense mutation; Biology; Lamin; Genetics; Short stature; Anatomy; Medicine; Mutation; Endocrinology; Gene","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":[0.0002133938,0.0001422425,0.0001573234,0.00003526669,0.00003593463,0.00002500046,0.0001549448,0.0001571907,0.00002127329],"category_scores_gemma":[0.00009051578,0.0001112836,0.00005582595,0.0001888477,0.00004352655,0.000004501366,0.00006315167,0.0001875879,0.00004578172],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000121899,"about_ca_system_score_gemma":0.00004168113,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008945052,"about_ca_topic_score_gemma":0.0002129672,"domain_scores_codex":[0.9989741,0.00008834252,0.0002373468,0.000356237,0.0001235036,0.0002204076],"domain_scores_gemma":[0.999598,0.00001040214,0.00006486215,0.0002537035,0.00002065001,0.00005238828],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001299896,0.000129643,0.001484434,0.00002768355,0.0000363673,0.0006397252,0.001792915,0.00004724585,0.981457,0.00007886877,0.00831293,0.004693308],"study_design_scores_gemma":[0.02600354,0.007996503,0.3284267,0.0001511296,0.0001724993,0.004173861,0.002700621,0.003313027,0.1335653,0.0002962592,0.4905625,0.002637995],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.995432,0.0001727225,0.0002383878,0.001495345,0.0001276674,0.0002370521,0.00003472054,0.000008394641,0.002253701],"genre_scores_gemma":[0.997189,0.00003527908,0.001170245,0.0007790878,0.0004492123,0.00001643467,0.0001250567,0.00002031684,0.000215362],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8478916,"threshold_uncertainty_score":0.4538013,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007323961507077783,"score_gpt":0.2138474579387621,"score_spread":0.2065234964316843,"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."}}