{"id":"W3189485021","doi":"10.1212/nxg.0000000000000618","title":"Pathogenic <i>DNM1</i> Gene Variant Presenting With Unusually Nonsevere Neurodevelopmental Phenotype: A Case Report","year":2021,"lang":"en","type":"article","venue":"Neurology Genetics","topic":"Cellular transport and secretion","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster Children's Hospital","funders":"","keywords":"Intellectual disability; Epilepsy; Global developmental delay; Missense mutation; Neurology; Phenotype; Medicine; Hypotonia; Compound heterozygosity; Pediatrics; Genetic testing; Bioinformatics; Genetics; Psychiatry; Gene; Biology; Internal 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003271636,0.001958888,0.0009257292,0.00182278,0.002282663,0.001398533,0.0009284079,0.004119962,0.001958756],"category_scores_gemma":[0.00183682,0.001093651,0.001085727,0.001064043,0.00169085,0.001410104,0.001584734,0.002130438,0.0005982281],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009415102,"about_ca_system_score_gemma":0.0006573288,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002455685,"about_ca_topic_score_gemma":0.00264454,"domain_scores_codex":[0.9992501,0.00006440227,0.00008303198,0.0002183828,0.00009537683,0.0002886031],"domain_scores_gemma":[0.9989693,0.0002541111,0.0003022993,0.0001120207,0.00005711279,0.0003051274],"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":[0.00001482936,0.00001946385,0.004184995,0.00001334334,0.000005725124,0.9938828,0.0001095005,0.00003085035,0.0008677015,0.0001030068,0.0001766105,0.000591175],"study_design_scores_gemma":[0.000004588097,0.00002138405,0.001813925,0.00000543735,0.000007766897,0.9972729,0.00006035045,0.0001041138,0.000336504,0.00009328071,0.0002736469,0.000006001541],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9895182,0.001856038,0.002436733,0.001131987,0.000186118,0.000100238,0.0001845307,0.0001485343,0.004437504],"genre_scores_gemma":[0.9961182,0.0007459434,0.001423722,0.0004272758,0.0003948045,0.00002379247,0.00007952711,0.00002746804,0.0007593016],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004119962,"threshold_uncertainty_score":0.006831229,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008067303578740756,"score_gpt":0.2084069669038443,"score_spread":0.2003396633251036,"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."}}