{"id":"W2166510493","doi":"10.1136/jmg.37.5.384","title":"Importance of the autosomal recessive retinitis pigmentosa locus on 1q31-q32.1 (RP12) and mutation analysis of the candidate gene <i>RGS16 </i>(<i>RGS-r</i>)","year":2000,"lang":"en","type":"letter","venue":"Journal of Medical Genetics","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"Amgen (Canada)","funders":"Hokkaido University; Ministério da Saúde; Mochida Memorial Foundation for Medical and Pharmaceutical Research; Deutsche Forschungsgemeinschaft","keywords":"Genetics; Retinitis pigmentosa; Locus (genetics); Biology; Genetic linkage; Locus heterogeneity; Genetic heterogeneity; Candidate gene; Gene; Phenotype","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":[0.0005159895,0.0002765013,0.0005792254,0.0001431111,0.00007521637,0.00002077122,0.000813983,0.0006574399,0.0001373944],"category_scores_gemma":[0.0003074885,0.0001640872,0.0004472264,0.0004096363,0.0004164363,0.000003503711,0.0001717938,0.0008275106,4.477749e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002369994,"about_ca_system_score_gemma":0.0005749417,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001683363,"about_ca_topic_score_gemma":0.00004732017,"domain_scores_codex":[0.996537,0.0002841744,0.001056102,0.0002836013,0.001581976,0.0002571669],"domain_scores_gemma":[0.9975461,0.00007539731,0.001579956,0.0004491338,0.00023846,0.0001109401],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001148523,0.0004443988,0.09475917,0.0006408008,0.009464354,0.0006541274,0.001065449,0.001429367,0.03601592,0.0000140287,0.8016307,0.0527332],"study_design_scores_gemma":[0.005588834,0.002465646,0.1636629,0.001822338,0.008408914,0.000805104,0.0002958942,0.0004938029,0.2061541,0.000594931,0.6081737,0.001533899],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9220006,0.00445534,0.00009337639,0.07199101,0.000504549,0.0002157866,0.0001044613,0.000001899489,0.0006329635],"genre_scores_gemma":[0.8187688,0.03988646,0.0007369231,0.136797,0.002247219,0.00001261016,0.0003726506,0.00009698416,0.001081363],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.193457,"threshold_uncertainty_score":0.6691281,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006264192651327847,"score_gpt":0.2418428567563877,"score_spread":0.2355786641050598,"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."}}