{"id":"W2399470061","doi":"","title":"A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene.","year":2004,"lang":"en","type":"article","venue":"PubMed","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Children's Hospital","funders":"","keywords":"Transducin; Genetics; Biology; Achromatopsia; Proband; Gene; Mutation; Molecular biology; Biochemistry; G protein","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0001233423,0.0008546489,0.0002003681,0.0004497832,0.0004508959,0.0001796126,0.000616104,0.0005962041,0.002439371],"category_scores_gemma":[0.0003471598,0.0001768432,0.000579261,0.0002906005,0.0006580462,0.00008694903,0.0002506746,0.0005748536,0.000957464],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006603358,"about_ca_system_score_gemma":0.0009372927,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01009039,"about_ca_topic_score_gemma":0.01416576,"domain_scores_codex":[0.9998648,0.00001464929,0.00001245036,0.00003978567,0.000050505,0.0000177541],"domain_scores_gemma":[0.9997428,0.00009022297,0.00006029492,0.00001810731,0.00002237592,0.00006612566],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0007314648,0.0002635205,0.008862851,0.0003043487,0.0001395388,0.01882214,0.0001822077,0.0006354692,0.9499388,0.0004894242,0.0005284178,0.01910183],"study_design_scores_gemma":[0.0005116315,0.002411273,0.192551,0.0002945568,0.0008404226,0.1423695,0.0004985866,0.004338869,0.6133729,0.0006658686,0.04200745,0.0001379752],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9856517,0.001200544,0.007213987,0.0002671405,0.0001537545,0.0001754836,0.00226849,0.0002330899,0.002835757],"genre_scores_gemma":[0.9826297,0.0006744673,0.009966099,0.0001679518,0.00003180407,0.00004218875,0.003535503,0.0000492206,0.002903099],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01009039,"threshold_uncertainty_score":0.02006328,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0175089063047855,"score_gpt":0.2045272989020588,"score_spread":0.1870183925972733,"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."}}