{"id":"W1597389371","doi":"10.1007/s100380200062","title":"Identification of polymorphisms in the human SHP1 gene","year":2002,"lang":"en","type":"article","venue":"Journal of Human Genetics","topic":"Nuclear Structure and Function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":false,"ca_institutions":"Robarts Clinical Trials","funders":"Canadian Institutes of Health Research; Canadian Diabetes Association; Canada Research Chairs; Heart and Stroke Foundation of Canada","keywords":"Genetics; Missense mutation; Single-nucleotide polymorphism; Exon; Biology; Gene; SNP; Lipodystrophy; Coding region; Phenotype; Genotype","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002238756,0.00006641915,0.00009597715,0.00006712286,0.00005354767,0.00001559567,0.0002221737,0.00007089096,0.00004833526],"category_scores_gemma":[0.00001255916,0.00004977377,0.00007879215,0.0000635307,0.00005102342,0.000002966272,0.00002024886,0.00009670423,0.000002130434],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007107663,"about_ca_system_score_gemma":0.000006488524,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001727382,"about_ca_topic_score_gemma":0.000009859385,"domain_scores_codex":[0.9992304,0.0000525497,0.0003964136,0.00007706296,0.000159742,0.00008385011],"domain_scores_gemma":[0.9993685,0.000003608026,0.0003122367,0.0002111214,0.00008338585,0.00002116489],"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":[0.000006389795,0.00005277933,0.002608511,0.000003700207,0.00001761865,0.000003153637,0.0002732139,0.00005558271,0.9939211,0.00007379937,0.002125352,0.0008587859],"study_design_scores_gemma":[0.0008702085,0.0009971422,0.1387398,0.0000142563,0.00007091343,0.0001878169,0.0002588112,0.00005937822,0.8506311,0.001034349,0.006977615,0.0001586048],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979975,0.001294672,0.0001342154,0.00009885222,0.0001242457,0.00004764472,0.000001951726,8.027714e-7,0.0003000767],"genre_scores_gemma":[0.9989972,0.0001642011,0.0001328351,0.00009646047,0.0003678844,5.284863e-7,0.000004540083,0.000009466115,0.0002268511],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1432901,"threshold_uncertainty_score":0.2029715,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01578344525698317,"score_gpt":0.2507650017197769,"score_spread":0.2349815564627938,"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."}}