{"id":"W2590761610","doi":"10.1038/jhg.2017.18","title":"Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1","year":2017,"lang":"en","type":"article","venue":"Journal of Human Genetics","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University and Génome Québec Innovation Centre; Children's Hospital of Eastern Ontario","funders":"","keywords":"Cutis laxa; Missense mutation; Genetics; Mutation; Biology; 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":[0.0002946976,0.0001255857,0.0001914223,0.0001216619,0.0001601035,0.00009814725,0.0004144933,0.00009510426,0.00001267834],"category_scores_gemma":[0.0001946755,0.0001072164,0.00005679025,0.00004887208,0.00009058906,0.000007238993,0.0001242717,0.0001851268,0.000002648138],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004645177,"about_ca_system_score_gemma":0.0002161404,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003734385,"about_ca_topic_score_gemma":0.001607674,"domain_scores_codex":[0.9990306,0.00004363964,0.0002315532,0.0001799077,0.0002417485,0.0002725799],"domain_scores_gemma":[0.9990494,0.000009900791,0.0002307708,0.0003207631,0.0002687464,0.0001204729],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0003859002,0.0002288701,0.02110518,0.00002210925,0.00006618746,0.0003732357,0.0004728427,0.0003501368,0.9719132,0.00005722568,0.0003331641,0.004692],"study_design_scores_gemma":[0.003373775,0.003208832,0.4776788,0.00009512806,0.00002689376,0.001529566,0.000339693,0.00004318281,0.5108727,0.0001727888,0.002412314,0.0002464006],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968116,0.0006629035,0.001505338,0.0004793356,0.00004351478,0.0002152281,0.000005745763,0.000001499444,0.0002748496],"genre_scores_gemma":[0.9961239,0.00004110642,0.003302525,0.00005173927,0.000180337,0.000009154228,0.000004508165,0.00002400975,0.0002627751],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4610405,"threshold_uncertainty_score":0.4372159,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01776100019353487,"score_gpt":0.3324023364225717,"score_spread":0.3146413362290368,"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."}}