{"id":"W2768464190","doi":"10.1016/j.ajhg.2009.08.013","title":"Genomic and Genic Deletions of the FOX Gene Cluster on 16q24.1 and Inactivating Mutations of FOXF1 Cause Alveolar Capillary Dysplasia and Other Malformations","year":2009,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Renal and related cancers","field":"Biochemistry, Genetics and Molecular Biology","cited_by":11,"is_retracted":false,"has_abstract":false,"ca_institutions":"McMaster University","funders":"","keywords":"Nonsense; Genetics; Nonsense mutation; Biology; Proband; Frameshift mutation; Gene; Mutation","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":[0.0001318045,0.0007501499,0.0003474475,0.001016539,0.0003333064,0.0001928414,0.0003422686,0.0006388625,0.004337288],"category_scores_gemma":[0.0007677978,0.0002677571,0.0002868133,0.0005533459,0.000698969,0.0001360431,0.0003673559,0.0004354249,0.0004481528],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002994087,"about_ca_system_score_gemma":0.0002913484,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001873345,"about_ca_topic_score_gemma":0.003241611,"domain_scores_codex":[0.9998232,0.00002402827,0.00001431573,0.00005172046,0.00005266607,0.00003414167],"domain_scores_gemma":[0.9996794,0.00008631946,0.0001250911,0.00002993651,0.00001403696,0.00006506599],"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":[0.001452526,0.0002572389,0.06274541,0.0001787349,0.0002424056,0.03892381,0.000362535,0.002214597,0.8637455,0.004219301,0.001579399,0.02407859],"study_design_scores_gemma":[0.0008689103,0.0009205212,0.5267704,0.0001461155,0.0006217229,0.2618227,0.0004918218,0.002400452,0.1726657,0.005482501,0.02770828,0.0001009304],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.995531,0.0007154081,0.0009208011,0.000223638,0.00003267856,0.00001841975,0.0007694348,0.00003542133,0.001753345],"genre_scores_gemma":[0.9963624,0.0003429991,0.0009077239,0.00005065533,0.00002162112,0.00002413152,0.0006169506,0.00001815452,0.0016554],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004337288,"threshold_uncertainty_score":0.01450968,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00742922101434452,"score_gpt":0.2457859672383552,"score_spread":0.2383567462240107,"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."}}