{"id":"W2032030931","doi":"10.1002/ajmg.a.32669","title":"A patient with the Simpson–Golabi–Behmel syndrome displays a loss‐of‐function point mutation in <i>GPC3</i> that inhibits the attachment of this proteoglycan to the cell surface","year":2009,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":false,"ca_institutions":"Health Sciences Centre; University of Toronto; Sunnybrook Health Science Centre","funders":"","keywords":"Medicine; Chemistry","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":[0.0002235316,0.001818918,0.0007176416,0.001113145,0.001361662,0.0006916898,0.0005428575,0.002675573,0.001808692],"category_scores_gemma":[0.001792282,0.0005404894,0.000533601,0.0007039644,0.001332587,0.0004556335,0.0006489092,0.001308251,0.0005040296],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005054089,"about_ca_system_score_gemma":0.0005717739,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00419693,"about_ca_topic_score_gemma":0.002791841,"domain_scores_codex":[0.9997388,0.00002878785,0.00003035273,0.00006956593,0.00006234119,0.00007017965],"domain_scores_gemma":[0.9990745,0.0004113334,0.0001018181,0.00003990221,0.000049597,0.0003229517],"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":[0.0001806837,0.00008037841,0.01422409,0.00002984765,0.00002998328,0.9644005,0.0007844008,0.0002027545,0.01532009,0.0005904162,0.0005928978,0.003563877],"study_design_scores_gemma":[0.0000421631,0.0001933445,0.01705236,0.000007074347,0.00003365969,0.9772078,0.0002001802,0.0004622,0.003324916,0.0003985838,0.001050981,0.00002677608],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9904454,0.0004054838,0.001380451,0.001987297,0.0001657975,0.00004180025,0.0002404711,0.000102604,0.005230775],"genre_scores_gemma":[0.997632,0.0001301516,0.0006675012,0.000355109,0.0001027392,0.000005658954,0.00006511654,0.00001945927,0.001022168],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00419693,"threshold_uncertainty_score":0.008345008,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005504491112100869,"score_gpt":0.2319529445963023,"score_spread":0.2264484534842014,"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."}}