{"id":"W2114926573","doi":"10.1111/j.1399-0004.2005.00378.x","title":"The Hunter–McAlpine syndrome results from duplication 5q35–qter","year":2004,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"Canadian Electricity Association","funders":"Hospital Research Foundation","keywords":"Gene duplication; Chromosomal translocation; Genetics; Chromosome; Biology; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003275559,0.0001313158,0.0001350133,0.000009829193,0.0001739371,0.00005594779,0.0003365053,0.0001994038,0.00001656241],"category_scores_gemma":[0.0002318745,0.00009914231,0.0001345738,0.00005125237,0.0001670595,0.000002226659,0.000165762,0.0001255405,0.0001162793],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001431898,"about_ca_system_score_gemma":0.00009190281,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003980634,"about_ca_topic_score_gemma":0.00006075319,"domain_scores_codex":[0.9985979,0.00006924377,0.0006301831,0.0003753715,0.0001095194,0.0002178352],"domain_scores_gemma":[0.9988542,0.00008462655,0.0001528649,0.0007208972,0.0000903194,0.00009709617],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.006599504,0.006255379,0.179493,0.0001650823,0.004594934,0.0002073819,0.002980342,0.02028386,0.421875,0.01717932,0.06713865,0.2732276],"study_design_scores_gemma":[0.004667073,0.00132832,0.4035334,0.00003573472,0.0001073787,0.00005497738,0.0002388021,0.0001469041,0.03618178,0.007332087,0.5457742,0.0005992883],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9938592,0.0008703939,0.001768666,0.001769556,0.0004826771,0.0001543578,0.0001441541,0.00001499441,0.0009359582],"genre_scores_gemma":[0.9937594,0.001257643,0.001990489,0.0005848565,0.0005995175,0.00001716785,0.0003811966,0.00001900873,0.001390714],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4786356,"threshold_uncertainty_score":0.4042906,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02367582852614702,"score_gpt":0.296583988917311,"score_spread":0.2729081603911639,"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."}}