{"id":"W2035702525","doi":"10.1086/383205","title":"Novel Truncating Mutations in the Polyglutamine Tract Binding Protein 1 Gene (PQBP1) Cause Renpenning Syndrome and X-Linked Mental Retardation in Another Family with Microcephaly","year":2004,"lang":"en","type":"letter","venue":"The American Journal of Human Genetics","topic":"Genetic Neurodegenerative Diseases","field":"Neuroscience","cited_by":79,"is_retracted":false,"has_abstract":false,"ca_institutions":"Royal University Hospital","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Mental Health","keywords":"Microcephaly; Genetics; Gene; Polyglutamine tract; Biology; Medicine","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0004518258,0.0004027126,0.0005322131,0.0005012079,0.0002815398,0.0001794898,0.0007550452,0.00006944696,0.000006099573],"category_scores_gemma":[0.00009899588,0.0002609076,0.00009055816,0.0006832448,0.0007245928,0.0001069367,0.00006347478,0.001293811,0.000001717094],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001654572,"about_ca_system_score_gemma":0.0002442583,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007743181,"about_ca_topic_score_gemma":0.00003941634,"domain_scores_codex":[0.9969265,0.0006630615,0.0008117894,0.0004394254,0.0007275114,0.0004316678],"domain_scores_gemma":[0.9977164,0.0002585041,0.001512291,0.0003875214,0.00007547384,0.00004977961],"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":[0.00004299802,0.000119812,0.0009499068,0.00002055555,0.00002471764,0.0006105456,0.002807686,0.001040252,0.9939563,0.000001881709,0.0001517899,0.0002734982],"study_design_scores_gemma":[0.008454083,0.009946302,0.2859752,0.002410312,0.0009853115,0.0187945,0.008808287,0.0003913743,0.6605626,0.0003922645,0.0007287629,0.002551088],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9819279,0.0002062815,0.0001061149,0.01688491,0.00004734338,0.000742422,0.00006533846,0.000007775114,0.00001190693],"genre_scores_gemma":[0.9685236,0.00005931358,0.001624021,0.02938288,0.0002168833,0.00002987218,0.0000195658,0.00008835567,0.00005552321],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3333938,"threshold_uncertainty_score":0.9999843,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0422789253925059,"score_gpt":0.279523679834388,"score_spread":0.2372447544418821,"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."}}