{"id":"W1972012838","doi":"10.1097/gim.0b013e3181bd38a9","title":"Genotype–phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations","year":2009,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":86,"is_retracted":false,"has_abstract":false,"ca_institutions":"North York General Hospital","funders":"University of Pittsburgh; Johns Hopkins University","keywords":"Missense mutation; Haploinsufficiency; Genetics; Nonsense mutation; Biology; Epilepsy; Phenotype; Allele; Nonsense; Medicine; Gene; Neuroscience","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":[0.0001447304,0.001060892,0.0004124742,0.001441003,0.0004189486,0.0002987546,0.0003718118,0.0009240783,0.004511473],"category_scores_gemma":[0.0009148323,0.0002315133,0.0004479111,0.0007111873,0.0007737438,0.0002452334,0.0003936311,0.0004769912,0.0004311785],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003282258,"about_ca_system_score_gemma":0.0002882693,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003708896,"about_ca_topic_score_gemma":0.004098502,"domain_scores_codex":[0.9996918,0.00003693266,0.00004757612,0.00006058165,0.0001010385,0.00006203492],"domain_scores_gemma":[0.9992392,0.000385521,0.0001314073,0.00002732982,0.00005636985,0.0001602541],"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":[0.001499325,0.0002538031,0.1062561,0.0001116564,0.0002530673,0.2736198,0.0008678961,0.0009792576,0.6006134,0.0005663218,0.001114822,0.01386444],"study_design_scores_gemma":[0.0001257563,0.0007499192,0.4538585,0.00002546782,0.0002587079,0.4072094,0.0005195022,0.003132859,0.1317003,0.0004956067,0.001846642,0.00007732955],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997534,0.0001055963,0.0004629667,0.0001259906,0.00001611497,0.00001641358,0.0003862241,0.00003350669,0.001319125],"genre_scores_gemma":[0.9988133,0.00004135669,0.000439593,0.00004835152,0.000009961282,0.000009240589,0.0001977233,0.00002537258,0.000415037],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004511473,"threshold_uncertainty_score":0.01509237,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01242766328670457,"score_gpt":0.2657483439886668,"score_spread":0.2533206807019622,"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."}}