{"id":"W3093872343","doi":"10.1111/joim.13193","title":"Pseudoxanthoma elasticum overlaps hereditary spastic paraplegia type 56","year":2020,"lang":"en","type":"article","venue":"Journal of Internal Medicine","topic":"Dermatological and Skeletal Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"Canadian Nautical Research Society","funders":"Fondazione Roma; Assistance Publique - Hôpitaux de Paris; Agence Nationale de la Recherche","keywords":"Pseudoxanthoma elasticum; Medicine; Proband; Hereditary spastic paraplegia; Angioid streaks; Exome sequencing; Pathology; Missense mutation; Compound heterozygosity; Phenotype; Dermatology; Macular degeneration; Ophthalmology; Genetics; Mutation; Gene; Biology","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":[0.0002843723,0.0006148334,0.0004689468,0.001513543,0.0006383409,0.0003016542,0.0002867483,0.0006121283,0.002725041],"category_scores_gemma":[0.001355152,0.0001868164,0.0003467714,0.0008723451,0.0004986583,0.0002211849,0.0005361736,0.0002758456,0.0003130596],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002498812,"about_ca_system_score_gemma":0.0002097851,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001769439,"about_ca_topic_score_gemma":0.001952066,"domain_scores_codex":[0.999653,0.00006530922,0.00004993168,0.00008527665,0.00006230037,0.00008419422],"domain_scores_gemma":[0.9994778,0.0001447968,0.0002026556,0.00004612808,0.00004650743,0.0000821991],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004973225,0.00007214704,0.7787487,0.0001543984,0.0001123007,0.1811416,0.0004987642,0.0002595742,0.02442479,0.000276675,0.0004589823,0.01335472],"study_design_scores_gemma":[0.00002752205,0.0002480077,0.6003006,0.00003636717,0.00007622025,0.3947913,0.0001925958,0.0003795829,0.002724522,0.0001936694,0.001020059,0.000009477665],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983875,0.0003641007,0.0001901688,0.00004542343,0.000004916076,0.00001134691,0.00006949312,0.00001068688,0.0009164325],"genre_scores_gemma":[0.9995344,0.0001092859,0.0001260048,0.00002283029,0.00001016895,0.000002658212,0.00007575775,0.000002363298,0.0001166983],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002725041,"threshold_uncertainty_score":0.009116173,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01316579706689738,"score_gpt":0.2549710880014076,"score_spread":0.2418052909345102,"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."}}