{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001034735,0.000139239,0.000289913,0.0000353213,0.00002217819,0.000007653007,0.0002691454,0.00008357892,0.0003124443],"category_scores_gemma":[0.0008786418,0.00008767317,0.0001463733,0.00009328768,0.0001288481,0.00000649704,0.00006277717,0.000231097,0.00002767237],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006363108,"about_ca_system_score_gemma":0.00003970389,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00000578923,"about_ca_topic_score_gemma":0.000001721429,"domain_scores_codex":[0.9989682,0.00004616442,0.00043747,0.0001373807,0.0002468275,0.0001639781],"domain_scores_gemma":[0.9992329,0.00003457338,0.000229851,0.00008468998,0.0001712925,0.0002466675],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.002991061,0.0001880867,0.01548201,0.000129119,0.0006114776,0.00191913,0.0002306553,0.0001280689,0.4621501,0.0001983218,0.5114659,0.004506076],"study_design_scores_gemma":[0.01499172,0.04469348,0.07904564,0.001610794,0.0008070127,0.01391476,0.002495752,0.001651648,0.04991392,0.002203018,0.7872044,0.001467836],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9767871,0.004111149,0.00656205,0.00710518,0.001534733,0.00006027536,0.000003817987,0.000007271153,0.003828413],"genre_scores_gemma":[0.9928851,0.0002666555,0.0002104282,0.004412284,0.002031278,4.5184e-7,0.000005684131,0.00001157783,0.0001765568],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4122362,"threshold_uncertainty_score":0.3575208,"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."}}