{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007686298,0.001437866,0.001299136,0.0009162665,0.002369093,0.001770947,0.001610187,0.03104623,0.003711366],"category_scores_gemma":[0.009496929,0.0006630831,0.001658032,0.0007764221,0.002032487,0.001351686,0.0008397428,0.01087836,0.00170872],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003208559,"about_ca_system_score_gemma":0.001734523,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005562271,"about_ca_topic_score_gemma":0.005914334,"domain_scores_codex":[0.9987667,0.0002279894,0.0001596386,0.0002031531,0.0003017346,0.0003408476],"domain_scores_gemma":[0.9976602,0.001174053,0.0002583107,0.00007407569,0.0003545451,0.0004788439],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002257621,0.0001620715,0.007556196,0.00009207219,0.00009369674,0.7599294,0.0003642894,0.0004874741,0.002118805,0.00413466,0.2148089,0.01002667],"study_design_scores_gemma":[0.0007390299,0.0004313365,0.01524238,0.0005156604,0.0004228592,0.7844852,0.000942588,0.007356821,0.002636846,0.01385263,0.1732062,0.0001685935],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"commentary","genre_scores_codex":[0.05045161,0.003481192,0.001167445,0.891266,0.02446114,0.0001208798,0.0003670528,0.0002026614,0.02848209],"genre_scores_gemma":[0.4417245,0.004060874,0.003161175,0.4284929,0.08922353,0.0001712316,0.0003360655,0.0001902785,0.03263947],"genre_candidate":"commentary","genre_consensus":"commentary","teacher_disagreement_score":0.03104623,"threshold_uncertainty_score":0.02327985,"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."}}