{"id":"W6887767704","doi":"10.17632/cgmb2fjrhs.1","title":"Atypical phenotype in a patient with ceruloplasmin mutations in the compound heterozygous state","year":2024,"lang":"en","type":"dataset","venue":"Data Archiving and Networked Services (DANS)","topic":"Trace Elements in Health","field":"Nursing","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Ceruloplasmin; Compound heterozygosity; Phenotype; Mutation; Heterozygote advantage; Christian ministry","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007173762,0.000653457,0.0007573651,0.002437026,0.0004079608,0.0008778847,0.0009707749,0.0009485522,0.01634216],"category_scores_gemma":[0.003256145,0.0002073757,0.0007115456,0.002341313,0.0002695727,0.000303778,0.0007450588,0.0006771626,0.006280783],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006561808,"about_ca_system_score_gemma":0.001002458,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01303032,"about_ca_topic_score_gemma":0.02858385,"domain_scores_codex":[0.9994562,0.00008652566,0.00009669302,0.0001901191,0.00009702398,0.00007345698],"domain_scores_gemma":[0.9986803,0.0005430175,0.000177069,0.0002469874,0.0002427977,0.000109851],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"case_report","study_design_scores_codex":[0.00225967,0.0002181072,0.05367669,0.0049663,0.000525002,0.002294534,0.0001889398,0.001528024,0.003538486,0.001329628,0.8934858,0.03598873],"study_design_scores_gemma":[0.0008128816,0.0001454679,0.1572433,0.001282555,0.0005259579,0.005909169,0.0003764014,0.002020976,0.004260178,0.002892334,0.8243991,0.0001319045],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"dataset","genre_gemma":"dataset","genre_scores_codex":[0.005925011,0.0002594994,0.0002765974,0.0001357523,0.0000326626,0.00002501914,0.9921961,0.0002898476,0.0008594655],"genre_scores_gemma":[0.01329226,0.0002148471,0.001127801,0.00008579123,0.000009791122,0.0001161645,0.9843897,0.00004964997,0.0007139833],"genre_candidate":"dataset","genre_consensus":"dataset","teacher_disagreement_score":0.01634216,"threshold_uncertainty_score":0.05466998,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01740435306504562,"score_gpt":0.2855214303446744,"score_spread":0.2681170772796287,"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."}}