{"id":"W4385666626","doi":"10.1093/hmg/ddad130","title":"Macrocephaly and developmental delay caused by missense variants in RAB5C","year":2023,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Cellular transport and secretion","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa","funders":"Common Fund; National Institute of Environmental Health Sciences; NIH Office of the Director; National Human Genome Research Institute; Genome Alberta; Genome British Columbia; Ontario Genomics Institute; Canadian Institutes of Health Research; Genome Canada; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; St. Louis Children's Hospital; Children's Hospital of Eastern Ontario Foundation; Ontario Genomics; National Institutes of Health; Children's Hospital Foundation","keywords":"Missense mutation; Biology; Rab; Macrocephaly; Phenotype; GTPase; Endocytic cycle; Genetics; Guanine nucleotide exchange factor; Cell biology; Gene; Cell","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":[0.0001367925,0.001579582,0.0004799025,0.0008014984,0.0006918866,0.0002219442,0.0002890175,0.0006466937,0.001343901],"category_scores_gemma":[0.0005412192,0.0002986105,0.0003991311,0.0003932377,0.0009223071,0.0001621118,0.0005882863,0.0004721802,0.0001900899],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002380757,"about_ca_system_score_gemma":0.0002544468,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001773515,"about_ca_topic_score_gemma":0.002225752,"domain_scores_codex":[0.9997206,0.00003148455,0.00003723756,0.000116877,0.00005175137,0.00004205054],"domain_scores_gemma":[0.9997017,0.00008456205,0.000104836,0.00002314739,0.00002015644,0.00006552446],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0008605901,0.0001137823,0.08083446,0.0001777352,0.0002290771,0.5671422,0.001109549,0.0008020339,0.3343471,0.0006070726,0.0005822342,0.01319415],"study_design_scores_gemma":[0.0000757183,0.0007990658,0.2267903,0.0000324608,0.000252463,0.7145345,0.0003310673,0.0007993432,0.053575,0.0002986573,0.00245428,0.00005715005],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974332,0.0003098749,0.001209593,0.00006378283,0.00001707172,0.00001836621,0.0002527387,0.00004128987,0.000654145],"genre_scores_gemma":[0.9987007,0.0001939979,0.0005913819,0.00003891598,0.000013417,0.000006753799,0.000129861,0.00001109924,0.0003138533],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001773515,"threshold_uncertainty_score":0.0044958,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01072509074391215,"score_gpt":0.2345567882324506,"score_spread":0.2238316974885385,"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."}}