{"id":"W2086743998","doi":"10.1111/cge.12353","title":"Novel mutations in <i><scp>PCYT1A</scp></i> are responsible for spondylometaphyseal dysplasia with cone‐rod dystrophy","year":2014,"lang":"en","type":"letter","venue":"Clinical Genetics","topic":"Bone health and treatments","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":false,"ca_institutions":"Child and Family Research Institute","funders":"","keywords":"Citation; Library science; Genetics; Medicine; Computer science; Biology","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","research_integrity"],"consensus_categories":[],"category_scores_codex":[0.0005763543,0.0005720069,0.001605933,0.0003679831,0.0001187519,0.00004032465,0.0002387481,0.001544311,0.00001235324],"category_scores_gemma":[0.001390568,0.0004693626,0.0003867934,0.0004512421,0.0003882254,0.00002912468,0.00005541535,0.002182209,0.0001289207],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001123997,"about_ca_system_score_gemma":0.00125719,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002168802,"about_ca_topic_score_gemma":0.0001104895,"domain_scores_codex":[0.9958003,0.0002175272,0.001470876,0.001022692,0.0005468047,0.0009418125],"domain_scores_gemma":[0.9930519,0.004367221,0.0007030799,0.000992878,0.0004025191,0.000482407],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001482828,0.001808688,0.07243,0.001907532,0.000871659,0.001796637,0.0001012271,0.00005063924,0.00009564252,0.00005761327,0.9172591,0.002138432],"study_design_scores_gemma":[0.01367159,0.004368909,0.07591746,0.0005741011,0.001178996,0.0002050324,0.00004082848,0.0002140974,0.0001062047,0.0002364808,0.9032364,0.0002498989],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"commentary","genre_scores_codex":[0.4273877,0.002752605,0.005771766,0.5425535,0.003428553,0.01133278,0.002901772,0.0003499096,0.003521388],"genre_scores_gemma":[0.04295647,0.0006322446,0.07917669,0.8490975,0.005820724,0.0009910046,0.004561447,0.0005007663,0.01626318],"genre_candidate":"commentary","genre_consensus":"commentary","teacher_disagreement_score":0.3844312,"threshold_uncertainty_score":0.9997758,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08045334555708783,"score_gpt":0.3706342453920154,"score_spread":0.2901808998349276,"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."}}