{"id":"W2971947235","doi":"10.1002/mgg3.961","title":"De novo pathogenic <i>DNM1L</i> variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy","year":2019,"lang":"en","type":"article","venue":"Molecular Genetics & Genomic Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; Alberta Children's Hospital; University of Calgary; University of British Columbia","funders":"Alberta Children's Hospital Research Institute; Canadian Institutes of Health Research; Genome British Columbia; Michael Smith Health Research BC","keywords":"Sanger sequencing; Proband; Genetics; Missense mutation; Compound heterozygosity; Short stature; Global developmental delay; Genetic heterogeneity; Medicine; Biology; Bioinformatics; Gene; Phenotype; DNA sequencing; Mutation; Pediatrics","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":[0.000218306,0.001115719,0.000522534,0.001002736,0.00123008,0.0006414922,0.0006217746,0.002031513,0.001619479],"category_scores_gemma":[0.001358328,0.0004852802,0.0003930857,0.0005587967,0.0007944147,0.0004197303,0.0006533225,0.00101331,0.0003792117],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006743795,"about_ca_system_score_gemma":0.0003678939,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002197932,"about_ca_topic_score_gemma":0.002460617,"domain_scores_codex":[0.9996798,0.00002714056,0.00003509527,0.0001355865,0.00004956935,0.00007282798],"domain_scores_gemma":[0.9993445,0.0002155272,0.0001376209,0.00002924512,0.00004326825,0.0002298359],"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":[0.0001214137,0.00005859174,0.02542329,0.00002419668,0.00001260135,0.9645897,0.0002501094,0.0001671962,0.007358298,0.0001675666,0.0002964985,0.001530509],"study_design_scores_gemma":[0.00002897768,0.0001797916,0.04236514,0.00001893364,0.00003286609,0.9532148,0.0001485525,0.0008241506,0.002364525,0.0002206564,0.000581096,0.00002053505],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9963265,0.0002362535,0.0006435714,0.0004627505,0.00004156987,0.0000308218,0.0001944464,0.00006173018,0.00200224],"genre_scores_gemma":[0.9988318,0.00007004807,0.0005569152,0.000161595,0.00003946349,0.000005128554,0.00005764004,0.00001164571,0.0002659183],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002197932,"threshold_uncertainty_score":0.005417705,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.003561183906576964,"score_gpt":0.1920321750197663,"score_spread":0.1884709911131894,"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."}}