{"id":"W1978634652","doi":"10.1111/j.1399-0004.2009.01171_3.x","title":"<i>ZFP57 </i>mutations cause an autosomal recessive imprinting disorder","year":2009,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Imprinting (psychology); Genetics; Biology; Genomic imprinting; Mutation; DNA methylation; Gene; Gene expression","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":[0.0001503376,0.001269139,0.0003776016,0.0007393196,0.0004471669,0.0003015639,0.0004423237,0.0006518081,0.002450139],"category_scores_gemma":[0.0005268898,0.000251708,0.0002933849,0.0003829742,0.0007292319,0.0001587963,0.0005080553,0.0004322767,0.000420446],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000338976,"about_ca_system_score_gemma":0.0002403954,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002329731,"about_ca_topic_score_gemma":0.002161469,"domain_scores_codex":[0.9998106,0.00001533952,0.00002359538,0.0000618115,0.00005720212,0.00003144264],"domain_scores_gemma":[0.9996817,0.00006739271,0.0001284417,0.00001406777,0.00001680373,0.00009154471],"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":[0.001612922,0.0001455753,0.07723041,0.0001920048,0.0002990115,0.3124378,0.0005273789,0.0005994702,0.5803822,0.002062173,0.003968214,0.02054277],"study_design_scores_gemma":[0.0003113418,0.0004721038,0.3475716,0.00009642671,0.0005025286,0.5577101,0.0002861225,0.00126226,0.08495186,0.001066164,0.005701011,0.0000683968],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9940216,0.0006731966,0.001458824,0.0004236503,0.00005637154,0.00002404798,0.0004249715,0.0001807693,0.00273656],"genre_scores_gemma":[0.9979456,0.0001888519,0.0009239826,0.0001016222,0.00004096552,0.000006142147,0.0001150515,0.00003009957,0.0006477966],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002450139,"threshold_uncertainty_score":0.008196533,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03435661318581114,"score_gpt":0.3623240367160443,"score_spread":0.3279674235302332,"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."}}