{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005616479,0.0001282189,0.00008714165,0.0000334215,0.00009449331,0.00003313025,0.0002664219,0.00007803863,0.000005555194],"category_scores_gemma":[0.00006872322,0.00007898927,0.00007715885,0.0001581102,0.00008053894,0.000005469983,0.00002747866,0.00009410156,0.000006586279],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001842405,"about_ca_system_score_gemma":0.00003839345,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005716677,"about_ca_topic_score_gemma":0.0004569567,"domain_scores_codex":[0.9990758,0.00005239794,0.0001726035,0.0002427237,0.0001495447,0.000306944],"domain_scores_gemma":[0.9996303,0.00001265143,0.00004306212,0.0002521801,0.00002352274,0.00003825558],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.000930232,0.0008088087,0.06668703,0.000101477,0.0002832244,0.00009876657,0.004438167,0.0008551167,0.595038,0.001738483,0.008154782,0.3208659],"study_design_scores_gemma":[0.002316478,0.00008528203,0.6576546,0.00001170613,0.00004504637,0.00003784924,0.0006382798,0.00002636402,0.3170274,0.001789298,0.01996832,0.0003993801],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9883192,0.00102605,0.003120562,0.005230368,0.00009003545,0.0005796888,0.000003059253,0.00001063225,0.001620367],"genre_scores_gemma":[0.9976544,0.0001757688,0.0001904351,0.001089526,0.0001085006,0.0006306832,0.00006015252,0.00001118677,0.00007928246],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5909676,"threshold_uncertainty_score":0.3221089,"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."}}