{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00115293,0.0009419947,0.001087705,0.0009763797,0.0007654477,0.0008550729,0.001671172,0.005809064,0.006068597],"category_scores_gemma":[0.00455911,0.0004634556,0.0007661004,0.0003229343,0.0007408624,0.0008761419,0.0003054873,0.00412048,0.001701659],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005437845,"about_ca_system_score_gemma":0.0005027321,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001726462,"about_ca_topic_score_gemma":0.002702437,"domain_scores_codex":[0.9992387,0.0001290017,0.0001154567,0.0001786558,0.000179455,0.0001587339],"domain_scores_gemma":[0.9963321,0.001590258,0.0004228964,0.000110286,0.0008264337,0.0007179654],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001179538,0.0002159878,0.01807383,0.0006509846,0.0002684114,0.4176117,0.0002862694,0.0002940101,0.008444006,0.001293001,0.5139222,0.03776008],"study_design_scores_gemma":[0.0005561548,0.0003609262,0.05651947,0.0008028964,0.0003969807,0.6294508,0.00051512,0.003787808,0.004969706,0.003297606,0.2991746,0.0001678373],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.1509754,0.02180175,0.005437089,0.5814102,0.2149372,0.0002157083,0.001063149,0.0007114345,0.02344796],"genre_scores_gemma":[0.4811155,0.008019974,0.004299793,0.105719,0.3796042,0.00007514317,0.0005535083,0.0002306874,0.02038232],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.006068597,"threshold_uncertainty_score":0.02030146,"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."}}