{"id":"W1202090398","doi":"","title":"The Phenotype of a French Canadian Retinitis Pigmentosa Pedigree Linked to RP31, a Novel Dominant RP Locus","year":2006,"lang":"en","type":"article","venue":"Investigative Ophthalmology & Visual Science","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University","funders":"","keywords":"Retinitis pigmentosa; Locus (genetics); Locus heterogeneity; Phenotype; Genetics; Biology; Ophthalmology; Optometry; Medicine; Gene; Genetic heterogeneity","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004605903,0.004484209,0.001129365,0.003086925,0.005441448,0.001168348,0.001612797,0.002109741,0.006732708],"category_scores_gemma":[0.002030727,0.0008210153,0.001046333,0.002903348,0.002256653,0.0003909639,0.0009799532,0.001432186,0.000678687],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003676688,"about_ca_system_score_gemma":0.007225026,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.5769508,"about_ca_topic_score_gemma":0.4727172,"domain_scores_codex":[0.9990247,0.0001254528,0.00005773524,0.0002467771,0.00031243,0.0002329274],"domain_scores_gemma":[0.9988213,0.0003894944,0.0001762154,0.00006065197,0.0002013868,0.0003509144],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.00122961,0.0003158637,0.06069735,0.0003164121,0.000371623,0.8203003,0.006140326,0.002389102,0.06691961,0.00543142,0.005699657,0.0301887],"study_design_scores_gemma":[0.0002402729,0.000283374,0.2009637,0.0001677679,0.0006235557,0.768521,0.001886461,0.00330963,0.007114271,0.001142064,0.01551158,0.0002364079],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9765823,0.001863852,0.003516906,0.001285896,0.0001633186,0.0001464595,0.001365569,0.0002651324,0.01481056],"genre_scores_gemma":[0.9897448,0.0007121745,0.002021429,0.0002520916,0.00008631076,0.00002927259,0.000318216,0.00008542163,0.006750126],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4230492,"threshold_uncertainty_score":0.8510813,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01789035594073881,"score_gpt":0.284917502739182,"score_spread":0.2670271467984432,"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."}}