{"id":"W3040915137","doi":"10.1002/humu.24075","title":"The expanding clinical phenotype of germline <i>ABL1</i> ‐associated congenital heart defects and skeletal malformations syndrome","year":2020,"lang":"en","type":"article","venue":"Human Mutation","topic":"Renal and related cancers","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children’s Health Research Institute; Western University; Children's Hospital of Western Ontario; BC Children's Hospital; B.C. Women's Hospital & Health Centre; University of British Columbia","funders":"","keywords":"Biology; Germline; Missense mutation; Failure to thrive; Phenotype; Hypoplasia; Germline mutation; Genetics; Internal medicine; Mutation; Medicine; Anatomy; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001854882,0.0008691309,0.0004628182,0.0006870315,0.0004307812,0.0002888052,0.0003345997,0.0005795988,0.002164115],"category_scores_gemma":[0.001149135,0.0001537587,0.000213371,0.0004612465,0.0008980934,0.0002579461,0.0006613312,0.000543124,0.0003719869],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001551582,"about_ca_system_score_gemma":0.0003497992,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007618822,"about_ca_topic_score_gemma":0.0009111644,"domain_scores_codex":[0.999724,0.00003596816,0.00002352308,0.0000765877,0.00007757973,0.0000624176],"domain_scores_gemma":[0.9994662,0.0001429006,0.0001220697,0.00002519538,0.00004787882,0.0001956126],"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":[0.0002546175,0.000133446,0.1845744,0.0001084375,0.00005058058,0.6873477,0.0007984896,0.0006831665,0.09407224,0.0009995723,0.002584506,0.0283928],"study_design_scores_gemma":[0.00003209068,0.0002148093,0.1171359,0.00001843034,0.00003232745,0.8757729,0.0001724562,0.0004505683,0.004191605,0.0003025041,0.001658899,0.0000175128],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.989125,0.0004215316,0.001413072,0.000325021,0.00004060158,0.00003643746,0.0001525023,0.0001289004,0.008356907],"genre_scores_gemma":[0.9988558,0.0001251931,0.0004453194,0.0001299401,0.0000409554,0.000005855754,0.0000668113,0.00001174306,0.0003183855],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002164115,"threshold_uncertainty_score":0.007239699,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01830424897616233,"score_gpt":0.2943634552538086,"score_spread":0.2760592062776462,"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."}}