{"id":"W2128973264","doi":"10.1093/hmg/ddu471","title":"A polyadenylation site variant causes transcript-specific BMP1 deficiency and frequent fractures in children","year":2014,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":44,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Shriners Hospitals for Children - Canada; McGill Genome Centre","funders":"","keywords":"Biology; Procollagen peptidase; Exon; Bone morphogenetic protein; Bone mineral; Genetics; Molecular biology; Endocrinology; Osteoporosis; Gene","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":[0.0001915774,0.001242339,0.0005680202,0.001281172,0.0006807927,0.0003329139,0.0004357672,0.00110965,0.002102965],"category_scores_gemma":[0.000974787,0.0003979949,0.0005859103,0.000876486,0.0007739135,0.000189505,0.0005853762,0.0006952265,0.0003691681],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003316683,"about_ca_system_score_gemma":0.0003476416,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001861207,"about_ca_topic_score_gemma":0.002041405,"domain_scores_codex":[0.9995089,0.00005476323,0.00005776845,0.0001633748,0.0001367634,0.0000784682],"domain_scores_gemma":[0.9995757,0.0001210561,0.0001764969,0.00001860665,0.00002742431,0.00008082359],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001126885,0.0002641058,0.3032131,0.0004369684,0.0004015735,0.4336064,0.001462879,0.0009123998,0.2322537,0.001094396,0.001798864,0.02342873],"study_design_scores_gemma":[0.00009790937,0.0005141594,0.3455978,0.00008337091,0.000216023,0.6275865,0.0003506632,0.000522967,0.02076469,0.0003106797,0.003911493,0.00004363296],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968141,0.0005730666,0.001111631,0.0001484699,0.00003410352,0.00003119167,0.0006148084,0.00007262315,0.0005999913],"genre_scores_gemma":[0.9972429,0.0004852788,0.001192283,0.00008295201,0.00004329828,0.00002212652,0.0004294883,0.0000280241,0.0004736772],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002102965,"threshold_uncertainty_score":0.007035136,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01024215060570375,"score_gpt":0.274049023517255,"score_spread":0.2638068729115512,"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."}}