{"id":"W2097036195","doi":"10.1016/j.ygeno.2005.04.002","title":"Characterization of a novel cation transporter ATPase gene (ATP13A4) interrupted by 3q25–q29 inversion in an individual with language delay","year":2005,"lang":"en","type":"article","venue":"Genomics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":54,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; North York General Hospital; Hospital for Sick Children","funders":"Canadian Institutes of Health Research; Sick Kids Foundation; Ontario Genomics Institute; Genome Canada; Howard Hughes Medical Institute","keywords":"Biology; Breakpoint; Chromosomal inversion; Genetics; Locus (genetics); Fluorescence in situ hybridization; Gene; Exon; Gene mapping; Bacterial artificial chromosome; Chromosome; Karyotype; Genome","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002845516,0.002322684,0.0009698106,0.002449466,0.00140581,0.0006742532,0.001677351,0.003054594,0.00332168],"category_scores_gemma":[0.002341047,0.0004940892,0.001073666,0.0009155497,0.001307272,0.0005623287,0.0009114874,0.001615717,0.0006357417],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005371906,"about_ca_system_score_gemma":0.0007045151,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005573153,"about_ca_topic_score_gemma":0.002214603,"domain_scores_codex":[0.999531,0.00004891584,0.00006177406,0.0001713794,0.00008679827,0.0001002815],"domain_scores_gemma":[0.9986518,0.0007000644,0.000186784,0.00005117301,0.0001200716,0.0002900711],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0003055445,0.000114017,0.01384255,0.0000368662,0.00003955328,0.9210528,0.000979109,0.0004640208,0.05976801,0.0004904133,0.0002389216,0.002668207],"study_design_scores_gemma":[0.00010656,0.0007340797,0.04638392,0.0000319054,0.0002404985,0.9138966,0.001053728,0.003189082,0.03102425,0.0007508969,0.002492851,0.00009562055],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9952254,0.0001619145,0.002059622,0.0006203612,0.0001058428,0.00006379052,0.0004323218,0.00006608495,0.001264733],"genre_scores_gemma":[0.9970345,0.0001025243,0.001387701,0.0001656878,0.00007995657,0.00002393485,0.0001808995,0.00003288177,0.0009917238],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005573153,"threshold_uncertainty_score":0.01111209,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00828611144659187,"score_gpt":0.2116588895656143,"score_spread":0.2033727781190224,"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."}}