{"id":"W2077992380","doi":"10.1002/ajmg.b.30822","title":"Novel de novo SHANK3 mutation in autistic patients","year":2008,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part B Neuropsychiatric Genetics","topic":"Autism Spectrum Disorder Research","field":"Neuroscience","cited_by":322,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Children's Hospital; Hôpital Rivière-des-Prairies; Hôpital Notre-Dame; Centre Hospitalier Universitaire Sainte-Justine; Douglas Mental Health University Institute; McGill University; Centre Hospitalier de l’Université de Montréal; Université de Montréal","funders":"Genome Canada","keywords":"Missense mutation; Genetics; Gene; Biology; splice; Mutation; Phenotype; Autism; Splice site mutation; RNA splicing; Medicine; RNA","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":[0.0001788345,0.001676174,0.0006375427,0.002021236,0.001256289,0.0006571048,0.0006552088,0.001381615,0.00300424],"category_scores_gemma":[0.001293882,0.0005925326,0.0005336336,0.0007600076,0.0009059747,0.0003323114,0.0008423192,0.0007294804,0.0006774657],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000596068,"about_ca_system_score_gemma":0.0004076067,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002501942,"about_ca_topic_score_gemma":0.003067204,"domain_scores_codex":[0.9995161,0.00003232811,0.00006380616,0.0001863808,0.0001397673,0.00006159143],"domain_scores_gemma":[0.9994912,0.0001258224,0.0001395313,0.00003555058,0.00004477604,0.0001630362],"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":[0.0005454303,0.0002545938,0.1389505,0.0001114308,0.0001256201,0.7578791,0.002407589,0.0004458994,0.08411802,0.0007439737,0.001285631,0.01313227],"study_design_scores_gemma":[0.00006425013,0.0002579882,0.153688,0.0000270717,0.00007062279,0.8384587,0.0003339228,0.0007183534,0.004739519,0.0004635195,0.001129045,0.00004891422],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997558,0.0001253205,0.000408518,0.000111243,0.00001978227,0.00002859196,0.0001398721,0.00009076753,0.001517992],"genre_scores_gemma":[0.9984844,0.00008115854,0.0006299911,0.00008503038,0.000016769,0.00001142469,0.0001245686,0.00001557571,0.0005510545],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00300424,"threshold_uncertainty_score":0.01005024,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02844676047125743,"score_gpt":0.3047048426150434,"score_spread":0.2762580821437859,"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."}}