{"id":"W1948277245","doi":"10.1111/cge.12196","title":"<i>WDR19</i> : An ancient, retrograde, intraflagellar ciliary protein is mutated in autosomal recessive retinitis pigmentosa and in Senior‐Loken syndrome","year":2013,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":71,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill University and Génome Québec Innovation Centre; McGill University Health Centre","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; Canadian Institutes of Health Research; National Institutes of Health; Foundation Fighting Blindness; Howard Hughes Medical Institute","keywords":"Retinitis pigmentosa; Disease gene identification; Genetics; Missense mutation; Nephronophthisis; Ciliopathies; Sanger sequencing; Intraflagellar transport; Biology; Exome sequencing; Ciliopathy; Mutation; Genetic heterogeneity; Bardet–Biedl syndrome; Gene; Phenotype; Mutant","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001120319,0.0005635018,0.0002368454,0.0006935588,0.0005072706,0.0001916826,0.000240334,0.000343139,0.002131215],"category_scores_gemma":[0.0002379352,0.0001215877,0.0002589542,0.0003479032,0.0003808262,0.00007298897,0.0001845546,0.0002136491,0.0003150059],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006757398,"about_ca_system_score_gemma":0.0003857617,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.04516536,"about_ca_topic_score_gemma":0.08813804,"domain_scores_codex":[0.9998866,0.000009644574,0.00001224408,0.00003739372,0.00003268029,0.00002140146],"domain_scores_gemma":[0.9998686,0.00002714136,0.00003651537,0.000007052562,0.00001967448,0.00004106012],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0009082752,0.0002129638,0.220718,0.000231551,0.0002338971,0.09177192,0.0007742602,0.000701859,0.6401895,0.0005806187,0.002261151,0.0414161],"study_design_scores_gemma":[0.0001124925,0.0003886553,0.826726,0.0000711297,0.0001962041,0.0974547,0.000278566,0.002430975,0.06478654,0.000216951,0.007291799,0.00004601395],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9970716,0.0003618188,0.000805845,0.0000854414,0.00001347689,0.00002682716,0.0003554389,0.00005468302,0.001224808],"genre_scores_gemma":[0.9976304,0.00008045125,0.001108811,0.00008718314,0.000007040594,0.00000570694,0.0002118379,0.00001540942,0.0008532198],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04516536,"threshold_uncertainty_score":0.08980495,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01591975377159204,"score_gpt":0.2915507766639699,"score_spread":0.2756310228923779,"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."}}