{"id":"W1954321068","doi":"10.1034/j.1399-0004.2002.610610.x","title":"Mutation in the cartilage‐derived morphogenetic protein‐1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome)","year":2002,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":88,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; Health Canada; Fogarty International Center; National Institutes of Health; Howard Hughes Medical Institute","keywords":"Brachydactyly; Missense mutation; Biology; Genetics; Hypoplasia; Mutation; Bone morphogenetic protein; Gene; Endocrinology; Anatomy; Short stature","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":[0.0001588094,0.001288498,0.0003185907,0.001029979,0.001027811,0.000269142,0.0003444576,0.0008681716,0.002621584],"category_scores_gemma":[0.0007105242,0.0005272962,0.0003857599,0.0005453346,0.0007430465,0.0001700635,0.0005419246,0.0003668733,0.0004442961],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003660158,"about_ca_system_score_gemma":0.000229861,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00216415,"about_ca_topic_score_gemma":0.003070667,"domain_scores_codex":[0.9997899,0.00003214936,0.00002880273,0.00006144599,0.00004693438,0.00004076205],"domain_scores_gemma":[0.9996934,0.0001251293,0.0000745722,0.00002048925,0.00001835848,0.00006807141],"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":[0.0006455549,0.0002262324,0.08290996,0.0001871302,0.0001973306,0.7797022,0.002211688,0.0002863803,0.1168153,0.0003600496,0.001004923,0.0154533],"study_design_scores_gemma":[0.0001317662,0.0004343176,0.1924583,0.00004685721,0.0002183491,0.7884765,0.0004229592,0.0005659045,0.01248128,0.0002179506,0.004503272,0.00004254249],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983072,0.0002472665,0.0005275558,0.00007952233,0.00002167296,0.0000167852,0.0001047509,0.00002239909,0.0006729222],"genre_scores_gemma":[0.9976575,0.0002788175,0.000714597,0.00007625785,0.00003515746,0.00001281132,0.0001477015,0.000008903809,0.001068262],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002621584,"threshold_uncertainty_score":0.008770108,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05394288249424435,"score_gpt":0.3230931420548231,"score_spread":0.2691502595605788,"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."}}