{"id":"W2150744321","doi":"10.1136/jmg.37.1.63","title":"Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome lq42-43","year":2000,"lang":"en","type":"letter","venue":"Journal of Medical Genetics","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":34,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Faculty of Medicine, Dalhousie University; Dalhousie University; Medical Research Council Canada; Institut National de la Santé et de la Recherche Médicale; University of Otago; Medical Research Council; Dunhill Medical Trust; Dalhousie Medical Research Foundation","keywords":"Hypoparathyroidism; Locus (genetics); Genetics; Pediatrics; Medicine; Polydactyly; Facial dysmorphism; Growth retardation; Biology; Pregnancy; Gene; Endocrinology","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006885562,0.0007680316,0.0007354691,0.000788353,0.001235131,0.0008736685,0.0008273437,0.009950957,0.01052687],"category_scores_gemma":[0.006574488,0.000321428,0.000522819,0.000258251,0.001164568,0.0008131454,0.0003873674,0.007344626,0.003505427],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001342666,"about_ca_system_score_gemma":0.0005032638,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002877174,"about_ca_topic_score_gemma":0.00252912,"domain_scores_codex":[0.9994848,0.0001705195,0.00004702555,0.00009525032,0.00009373202,0.0001085413],"domain_scores_gemma":[0.9974955,0.001357101,0.00009334175,0.0001300627,0.0003927062,0.0005311812],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.001770699,0.000670937,0.03738717,0.0002406785,0.00008176539,0.7353404,0.0008594364,0.0005418658,0.008612044,0.003965723,0.1819794,0.02854992],"study_design_scores_gemma":[0.001611084,0.001649096,0.07540771,0.0004376575,0.0002072429,0.6839493,0.001096554,0.007848448,0.006742516,0.01013262,0.2107504,0.0001674486],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"other","genre_scores_codex":[0.2602199,0.0041272,0.002881582,0.5923257,0.02021019,0.0003482102,0.0008299661,0.0002971218,0.1187602],"genre_scores_gemma":[0.7955986,0.003549484,0.002756451,0.1049923,0.03441165,0.0001772602,0.0009034737,0.0001498304,0.05746091],"genre_candidate":"other","genre_consensus":null,"teacher_disagreement_score":0.01052687,"threshold_uncertainty_score":0.03521585,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01659677635456452,"score_gpt":0.281446406440639,"score_spread":0.2648496300860745,"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."}}