{"id":"W1966292963","doi":"10.1038/ng.2356","title":"Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration","year":2012,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":205,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; McGill University and Génome Québec Innovation Centre; McGill University Health Centre","funders":"National Center for Research Resources; National Eye Institute; Canadian Institutes of Health Research; U.S. Department of Veterans Affairs","keywords":"Biology; Retinal degeneration; Genetics; Wallerian degeneration; Exome sequencing; Retinitis pigmentosa; Gene; Mutation; Neuroscience","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002632431,0.001058552,0.0004839173,0.0009582302,0.000570272,0.0006734892,0.0005639604,0.001414684,0.001571947],"category_scores_gemma":[0.0008275507,0.0003314113,0.0004171503,0.0003042551,0.0008353621,0.0006389439,0.0006478865,0.0006759704,0.000491768],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008109323,"about_ca_system_score_gemma":0.0003827862,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001370853,"about_ca_topic_score_gemma":0.002569358,"domain_scores_codex":[0.9997764,0.0000277177,0.00003152103,0.00004927747,0.00008842537,0.00002663606],"domain_scores_gemma":[0.9996165,0.0000967481,0.000131779,0.00002241066,0.00004115741,0.00009143387],"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":[0.0008058261,0.00005775399,0.01701182,0.0001583014,0.00009085831,0.03998462,0.000219644,0.001044842,0.9203575,0.005923687,0.001696074,0.01264918],"study_design_scores_gemma":[0.0002061163,0.0003891264,0.08802584,0.0001255266,0.0003305245,0.1545277,0.0004475431,0.01284896,0.7084768,0.008301041,0.02615249,0.0001682166],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9778234,0.0034598,0.009682412,0.001657592,0.0005475848,0.00004602859,0.0006508509,0.0003656249,0.005766589],"genre_scores_gemma":[0.9901536,0.001126795,0.006616417,0.0001853619,0.00006544228,0.00002389579,0.0002555441,0.00005989603,0.001513084],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001571947,"threshold_uncertainty_score":0.005883753,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01176297808007472,"score_gpt":0.2789094609653076,"score_spread":0.2671464828852328,"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."}}