{"id":"W2765118358","doi":"10.1136/jmedgenet-2017-104748","title":"Expanding the clinical spectrum of recessive truncating mutations of <i>KLHL7</i> to a Bohring-Opitz-like phenotype","year":2017,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":20,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre","funders":"Conseil régional de Bourgogne-Franche-Comté","keywords":"Genetics; Microcephaly; Exome sequencing; Phenotype; Biology; Genetic heterogeneity; Compound heterozygosity; Medical genetics; Mutation; 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":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.001643864,0.0001190152,0.0003987795,0.00006876892,0.0002212399,0.00003811549,0.001676498,0.0001407119,0.0001504306],"category_scores_gemma":[0.02536749,0.00007559558,0.0001922347,0.0001620701,0.000700065,0.00008013578,0.0003079415,0.0006975385,0.000007668153],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001202978,"about_ca_system_score_gemma":0.0002759258,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001049603,"about_ca_topic_score_gemma":0.00001718416,"domain_scores_codex":[0.9966098,0.0003622796,0.001198823,0.0002008088,0.001374626,0.000253629],"domain_scores_gemma":[0.9958955,0.001879645,0.001312881,0.0004515111,0.0001217444,0.0003387029],"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":[0.003344543,0.005181469,0.1436481,0.0004929949,0.0004536463,0.001883093,0.01395529,0.007186125,0.4566844,0.004100232,0.01841831,0.3446518],"study_design_scores_gemma":[0.01520865,0.0168554,0.6306406,0.001872276,0.0007095388,0.0008407558,0.003052391,0.008709619,0.2583667,0.03832043,0.02411652,0.001307114],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9821062,0.0001344237,0.001513693,0.01402424,0.001381113,0.0001507436,0.000007122163,0.000005480323,0.0006769682],"genre_scores_gemma":[0.9962591,0.0006210297,0.0009778179,0.001665721,0.0004407793,0.000001828856,1.471341e-7,0.00001338261,0.00002019261],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4869924,"threshold_uncertainty_score":0.9828423,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1072011868267663,"score_gpt":0.4100622003835627,"score_spread":0.3028610135567964,"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."}}