{"id":"W1967857104","doi":"10.1002/1096-8628(20000911)94:2<141::aid-ajmg6>3.0.co;2-a","title":"Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: Analysis of potential premature termination codons","year":2000,"lang":"en","type":"article","venue":"American Journal of Medical Genetics","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":23,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Genetics; Biology; genomic DNA; Gene; Mutation; Restriction enzyme; Stop codon; Molecular biology; Polymerase chain reaction; Point mutation","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":[0.0002261785,0.0006838265,0.0003150393,0.001836631,0.0002907793,0.0003028977,0.0001517943,0.0006071488,0.001303038],"category_scores_gemma":[0.001077281,0.0002521439,0.0001691239,0.0005016386,0.0002719502,0.0001397946,0.0002193517,0.0003348984,0.0004331465],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001464007,"about_ca_system_score_gemma":0.0001139316,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000704739,"about_ca_topic_score_gemma":0.0008114494,"domain_scores_codex":[0.9997494,0.0000442431,0.00002612049,0.00007712624,0.00007024059,0.00003297276],"domain_scores_gemma":[0.9996501,0.0001239312,0.00009248266,0.00001599633,0.00003811622,0.00007931915],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0008064302,0.0001312058,0.3981341,0.00009927605,0.00006363411,0.01413619,0.0009022121,0.000331388,0.5709367,0.0001506512,0.0003029397,0.01400525],"study_design_scores_gemma":[0.0001080249,0.001442618,0.792992,0.0000503438,0.0001746444,0.06015513,0.0005562717,0.002321873,0.1390217,0.0002778964,0.002852025,0.00004752044],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9985725,0.0002247041,0.0006376723,0.00002470275,0.0000055524,0.00002159601,0.0001319577,0.00002625602,0.0003551153],"genre_scores_gemma":[0.9972059,0.000223552,0.001951574,0.00004411636,0.000007872083,0.00002348499,0.0002054306,0.00001124617,0.0003267417],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001836631,"threshold_uncertainty_score":0.004359126,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0069991244520985,"score_gpt":0.297104579361028,"score_spread":0.2901054549089295,"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."}}