{"id":"W2016078825","doi":"10.1002/humu.22797","title":"A Gain-of-Function Mutation in<i>NALCN</i>in a Child with Intellectual Disability, Ataxia, and Arthrogryposis","year":2015,"lang":"en","type":"article","venue":"Human Mutation","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":61,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital; University of Toronto; Lunenfeld-Tanenbaum Research Institute; Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Canadian Institutes of Health Research","keywords":"Arthrogryposis; Biology; Ataxia; Mutation; Genetics; Intellectual disability; Gain of function; Neuroscience; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001368548,0.001219557,0.0003487859,0.0008309666,0.0006887715,0.0002500921,0.0005165507,0.000971441,0.001907026],"category_scores_gemma":[0.0005112721,0.0002803304,0.0005486421,0.000317938,0.0009598768,0.0002796153,0.0007415203,0.0007818952,0.0004797571],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004621615,"about_ca_system_score_gemma":0.0004999385,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002968772,"about_ca_topic_score_gemma":0.005213192,"domain_scores_codex":[0.9997771,0.00001719836,0.00002777851,0.00007216509,0.00006390022,0.00004185439],"domain_scores_gemma":[0.999708,0.00007055536,0.00008753116,0.00001010591,0.00001632019,0.0001075145],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"case_report","study_design_scores_codex":[0.0003424258,0.0001941676,0.01277913,0.0002042958,0.00007538614,0.4733947,0.0007112615,0.0003840173,0.4992667,0.0007419818,0.0009703087,0.0109356],"study_design_scores_gemma":[0.0001103943,0.0009421668,0.08063596,0.00008473171,0.000184023,0.7673652,0.0004066345,0.0009915759,0.1410382,0.0003869452,0.007780271,0.00007398902],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9922587,0.0003442519,0.003274809,0.0004444247,0.00009762993,0.00009503469,0.0005769279,0.0002271534,0.002681025],"genre_scores_gemma":[0.994265,0.000361464,0.003248931,0.0001411663,0.0000432632,0.00003615565,0.0003613587,0.00005189529,0.001490704],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002968772,"threshold_uncertainty_score":0.006379604,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01614280769623564,"score_gpt":0.2449396518599266,"score_spread":0.228796844163691,"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."}}