{"id":"W1992479558","doi":"10.1515/cclm-2011-0854","title":"Study of FTMT and ABCA4 genes in a patient affected by age-related macular degeneration: identification and analysis of new mutations","year":2012,"lang":"en","type":"article","venue":"Clinical Chemistry and Laboratory Medicine (CCLM)","topic":"Iron Metabolism and Disorders","field":"Medicine","cited_by":20,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Fondazione Cariplo; University of Calgary","keywords":"ABCA4; Macular degeneration; Identification (biology); Gene; Genetics; Biology; Medicine; Bioinformatics; Ophthalmology; Phenotype","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001678869,0.0008172211,0.0006266634,0.001489271,0.001149938,0.0003968739,0.0004014736,0.001842565,0.001433058],"category_scores_gemma":[0.001031589,0.000322506,0.0008519434,0.0007542371,0.0003900316,0.0003046685,0.0003434721,0.0006224734,0.0003302088],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004399543,"about_ca_system_score_gemma":0.0002259694,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002555328,"about_ca_topic_score_gemma":0.001136382,"domain_scores_codex":[0.9997713,0.00001675297,0.00002616385,0.00009013515,0.00005752937,0.00003800135],"domain_scores_gemma":[0.9996603,0.000117063,0.00005789849,0.00001838329,0.00005329456,0.0000930941],"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":[0.001113003,0.0006488528,0.3639614,0.0001297515,0.0001721758,0.5439378,0.002498195,0.0009387329,0.07481919,0.0002311108,0.0004635594,0.01108618],"study_design_scores_gemma":[0.0001055207,0.001400837,0.4062814,0.00003856529,0.0003259873,0.5646357,0.0006989382,0.004697152,0.01868202,0.000324433,0.00274058,0.00006887146],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989088,0.0002359644,0.0003206736,0.0001010448,0.000007549104,0.00001641516,0.0001082265,0.00001335168,0.0002881084],"genre_scores_gemma":[0.9990503,0.0001204113,0.0003660422,0.00008050962,0.00001548659,0.000005497076,0.00009635905,0.000006619178,0.0002587284],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002555328,"threshold_uncertainty_score":0.005080879,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02696168653012343,"score_gpt":0.3428514815648151,"score_spread":0.3158897950346917,"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."}}