{"id":"W1975106451","doi":"10.1002/ajmg.a.36841","title":"Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld‐anomaly in a child with <i>PTPN11</i> mutation","year":2014,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Protein Tyrosine Phosphatases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; Centre for Addiction and Mental Health; Hospital for Sick Children; Kingston General Hospital","funders":"Core Research for Evolutional Science and Technology","keywords":"Noonan syndrome; PTPN11; Medicine; Mutation; Pathology; Genetics; Biology; Internal medicine; Gene","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":[0.0002069336,0.001091091,0.0005291912,0.001293411,0.0006713037,0.0004361203,0.0003341891,0.000848666,0.001360309],"category_scores_gemma":[0.001104622,0.0003290767,0.0003202155,0.0006426616,0.001121985,0.0005144957,0.000761868,0.0007546742,0.0002187199],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002392893,"about_ca_system_score_gemma":0.0003305975,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001456302,"about_ca_topic_score_gemma":0.002215606,"domain_scores_codex":[0.9997345,0.00003773416,0.00003634116,0.00006846499,0.00005011346,0.00007290702],"domain_scores_gemma":[0.9994771,0.0002290039,0.0000985344,0.00002026923,0.00003141906,0.0001436833],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00007283243,0.00003979991,0.07606776,0.00003497689,0.00001097402,0.9033414,0.0005677739,0.0001557959,0.01535997,0.0003253486,0.0002397462,0.003783569],"study_design_scores_gemma":[0.000008778437,0.00009762325,0.05563059,0.00001706052,0.00001973544,0.9415183,0.0002495754,0.000207242,0.001581853,0.0001634794,0.0004939741,0.00001185179],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.995672,0.0004228529,0.0007191036,0.0002755569,0.00002163031,0.00001910379,0.00007446435,0.00003764683,0.002757667],"genre_scores_gemma":[0.9985583,0.000385361,0.0006574301,0.00009019552,0.00003942463,0.000007035184,0.00003492992,0.00001112315,0.0002161189],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001456302,"threshold_uncertainty_score":0.004550636,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008122751244622908,"score_gpt":0.2857674585532873,"score_spread":0.2776447073086644,"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."}}