{"id":"W2188327786","doi":"10.4238/vol9-3gmr897","title":"Case Report A novel COMP mutation in an Inuit patient with pseudoachondroplasia and severe short stature","year":2010,"lang":"en","type":"article","venue":"Genetics and Molecular Research","topic":"Ubiquitin and proteasome pathways","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba","funders":"","keywords":"Short stature; Exon; Missense mutation; Osteochondrodysplasia; Genetics; Mutation; Cartilage oligomeric matrix protein; Medicine; Biology; Gene; Internal medicine; Pathology; Osteoarthritis","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003994846,0.0001475094,0.0001147818,0.00007656231,0.0001747118,0.00014067,0.0001084995,0.000194215,0.000005746187],"category_scores_gemma":[0.00005528621,0.0001340183,0.000016096,0.0000908349,0.0002167476,0.000006249428,0.0002115195,0.0004105246,3.779319e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008135708,"about_ca_system_score_gemma":0.0001185385,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009684138,"about_ca_topic_score_gemma":0.001868478,"domain_scores_codex":[0.9986301,0.00008260412,0.0001702243,0.0005137405,0.0002764568,0.0003268431],"domain_scores_gemma":[0.9990768,0.000009415943,0.0000376508,0.0004667011,0.0001930554,0.0002163146],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00009736075,0.0001004359,0.005011056,0.00002788508,0.00001682231,0.01014629,0.0003628759,0.0000151177,0.975485,0.00005974112,0.00006871283,0.008608668],"study_design_scores_gemma":[0.001595162,0.002778265,0.005570957,0.00003160893,0.00001978037,0.09978009,0.0008614162,0.001046022,0.8828785,0.0001962797,0.004623303,0.0006185871],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983308,0.0003995986,0.0003980973,0.00007401359,0.0000264153,0.0004701836,0.00007151828,0.000004570492,0.0002247623],"genre_scores_gemma":[0.9954783,0.00007515074,0.004090405,0.00006768709,0.00003061117,0.00005312417,0.0001379563,0.00003066841,0.00003608641],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.09260651,"threshold_uncertainty_score":0.5465108,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02665434605828762,"score_gpt":0.3173549852529863,"score_spread":0.2907006391946987,"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."}}