{"id":"W1983575054","doi":"10.1073/pnas.0704140104","title":"Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons","year":2007,"lang":"en","type":"article","venue":"Proceedings of the National Academy of Sciences","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":170,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre; Montreal Children's Hospital","funders":"National Institute of General Medical Sciences; National Institute on Deafness and Other Communication Disorders; National Eye Institute","keywords":"Cilium; Cell biology; Biology; Axoneme; Olfactory system; Intraflagellar transport; Anosmia; Vomeronasal organ; Olfactory receptor; Neuroscience; Flagellum; Genetics; Gene; Internal medicine; Medicine","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":[0.0001208308,0.001067934,0.0003099387,0.0005866743,0.0002368075,0.0002605648,0.0003481556,0.0005558692,0.002173194],"category_scores_gemma":[0.0002541835,0.0002663824,0.0003009478,0.000286713,0.0006005361,0.0001957424,0.0005782468,0.0006239256,0.0006937469],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002650812,"about_ca_system_score_gemma":0.000250757,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001061888,"about_ca_topic_score_gemma":0.001441881,"domain_scores_codex":[0.9997116,0.00002242034,0.00004362562,0.00007673171,0.0001155039,0.00003014472],"domain_scores_gemma":[0.9997075,0.0000250517,0.0001017507,0.00001663229,0.00001525255,0.0001337529],"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":[0.0001475363,0.00002774142,0.0008582622,0.00004899915,0.00002253601,0.004862493,0.00002769915,0.00009846366,0.9918863,0.0001452583,0.0001719352,0.001702723],"study_design_scores_gemma":[0.0002247144,0.0006033228,0.1202439,0.00005433158,0.0001807292,0.1067009,0.0001725272,0.003541262,0.7561309,0.0006571988,0.01142151,0.00006865229],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9928511,0.0006637385,0.002684821,0.0001253996,0.00008547041,0.00005013619,0.00169811,0.0002626973,0.001578489],"genre_scores_gemma":[0.9946977,0.0004996717,0.001989638,0.00006823221,0.00002288596,0.00002076189,0.0008674156,0.00006139759,0.001772365],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002173194,"threshold_uncertainty_score":0.007270038,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03027907465271309,"score_gpt":0.285002729120839,"score_spread":0.2547236544681259,"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."}}