{"id":"W4323812720","doi":"10.1002/jbmr.4799","title":"Al-Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2-Related Disorders","year":2020,"lang":"en","type":"article","venue":"Journal of Bone and Mineral Research","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"B.C. Women's Hospital & Health Centre; University of British Columbia","funders":"National Human Genome Research Institute; Sällskapet Barnavård; Science for Life Laboratory; Vetenskapsrådet; National Health and Medical Research Council; Australian Genomics Health Alliance; Stiftelsen Frimurare Barnhuset i Stockholm; Karolinska Institutet; Broad Institute; Stiftelsen Promobilia; Bertil Hållstens Forskningsstiftelse; Genomic Health","keywords":"Sanger sequencing; Dysplasia; Medicine; Compound heterozygosity; Brachydactyly; Macrocephaly; Pathology; Genetics; Short stature; Pediatrics; Biology; Mutation; Gene","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":[0.001161357,0.000106375,0.0002347297,0.0001113388,0.0001122622,0.00002868681,0.0002214371,0.00008843141,0.00009640103],"category_scores_gemma":[0.001356191,0.00007360297,0.0001235777,0.0002623464,0.0008022568,0.00001206004,0.0002261049,0.0005168361,0.000004093682],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009413697,"about_ca_system_score_gemma":0.0002946601,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008782111,"about_ca_topic_score_gemma":0.00009716985,"domain_scores_codex":[0.9982935,0.0002799015,0.0003649485,0.0001860019,0.0005737895,0.0003019017],"domain_scores_gemma":[0.998953,0.0001620323,0.0001215452,0.0001480516,0.0004438038,0.0001715318],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0003935275,0.00008831025,0.00242552,0.00004163366,0.0001813876,0.00004514316,0.0003320244,0.00002320583,0.965811,0.0004271012,0.01811205,0.01211915],"study_design_scores_gemma":[0.009352416,0.01198602,0.02740593,0.0001860777,0.0001139795,0.0008686215,0.006748048,0.0009326272,0.2101943,0.001561111,0.7299483,0.0007024442],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9752142,0.008154212,0.00006133008,0.0146211,0.00004223136,0.0001768187,0.00001201059,0.000001537109,0.001716497],"genre_scores_gemma":[0.9972638,0.001952537,0.00007579383,0.0001098783,0.0001106445,0.000003560354,0.000008289063,0.00001274409,0.0004627755],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7556166,"threshold_uncertainty_score":0.3001442,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03115031613007608,"score_gpt":0.3416075264441312,"score_spread":0.3104572103140552,"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."}}