{"id":"W2160162217","doi":"10.1136/jmg.40.1.42","title":"Identification of a mutation in the Indian Hedgehog (<i>IHH</i>) gene causing brachydactyly type A1 and evidence for a third locus","year":2003,"lang":"en","type":"letter","venue":"Journal of Medical Genetics","topic":"Hedgehog Signaling Pathway Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":50,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Ottawa","funders":"Canadian Institutes of Health Research; Shriners Hospitals for Children","keywords":"Brachydactyly; Genetics; Locus (genetics); Indian hedgehog; Hedgehog; Biology; Gene; Endocrinology; 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":[0.0002120311,0.0008357845,0.0004841946,0.001590924,0.0007473375,0.0004951358,0.001113014,0.002642835,0.003408307],"category_scores_gemma":[0.001102281,0.0003939534,0.00119737,0.0006930332,0.0008871395,0.0003203047,0.000662057,0.0009634637,0.0005460778],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004316498,"about_ca_system_score_gemma":0.0004097389,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003435825,"about_ca_topic_score_gemma":0.001553037,"domain_scores_codex":[0.9995908,0.00002958862,0.00004548716,0.0001333634,0.0001070034,0.00009367602],"domain_scores_gemma":[0.9993444,0.0002443531,0.00009906022,0.00002798685,0.00004400346,0.0002401102],"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":[0.0006037166,0.0004029839,0.05135335,0.0001841583,0.000143394,0.7767923,0.0006939162,0.0003877862,0.1546504,0.001001736,0.001036542,0.01274961],"study_design_scores_gemma":[0.0001311278,0.001041021,0.185461,0.00006887929,0.0001910665,0.7789106,0.0002998133,0.001483735,0.02712393,0.0003616321,0.004830601,0.00009674375],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9924008,0.000877678,0.001778241,0.0005430338,0.0002197273,0.0001775292,0.000633768,0.00009766385,0.003271668],"genre_scores_gemma":[0.9962064,0.0002905304,0.001949604,0.0003096092,0.0001137171,0.00002855349,0.0002675808,0.00002337814,0.0008105312],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003435825,"threshold_uncertainty_score":0.01140195,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0490888337089592,"score_gpt":0.3381174119699947,"score_spread":0.2890285782610356,"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."}}