{"id":"W2279683159","doi":"10.1093/hmg/ddw022","title":"Mutations in<i>POMGNT1</i>cause non-syndromic retinitis pigmentosa","year":2016,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Cellular transport and secretion","field":"Biochemistry, Genetics and Molecular Biology","cited_by":48,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University Health Centre","funders":"National Center for Research Resources; National Eye Institute; Mizutani Foundation for Glycoscience; Canadian Institutes of Health Research; Japan Society for the Promotion of Science; Natural Science Foundation of Beijing Municipality; National Natural Science Foundation of China; Foundation Fighting Blindness","keywords":"Retinitis pigmentosa; Biology; Genetics; Mutation; Mutant; Gene; Allele; Glycosylation; Degenerative disease; Central nervous system disease; 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":[0.0002228411,0.002306478,0.0004925285,0.001144299,0.0004631567,0.0003528064,0.0005217253,0.000726671,0.002068107],"category_scores_gemma":[0.0005745509,0.0002571587,0.0006041483,0.0005624134,0.001013319,0.0001812756,0.0006077712,0.0005754132,0.0005891925],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004043427,"about_ca_system_score_gemma":0.0003197592,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001066555,"about_ca_topic_score_gemma":0.00122268,"domain_scores_codex":[0.9996957,0.00004282408,0.00004085562,0.00009719496,0.00008042291,0.00004297685],"domain_scores_gemma":[0.9996126,0.00007404963,0.0001852172,0.00002524689,0.00001948708,0.00008341988],"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":[0.001017484,0.0001882887,0.04873035,0.0004144152,0.0002800462,0.1234646,0.000681298,0.0007406656,0.7964578,0.001058597,0.00219348,0.02477292],"study_design_scores_gemma":[0.0002902913,0.0007381731,0.3171944,0.0001764146,0.0006082232,0.4428583,0.0004917654,0.002213944,0.217883,0.001435487,0.01599549,0.0001145621],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9896278,0.001810568,0.003735541,0.0002803468,0.00008435626,0.00007338342,0.0007872724,0.0004136012,0.003187088],"genre_scores_gemma":[0.9960048,0.0007712975,0.001527368,0.00009704514,0.00004734571,0.00002100739,0.0003972435,0.00006842691,0.001065404],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002306478,"threshold_uncertainty_score":0.00691849,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01270409098475928,"score_gpt":0.2466193011164518,"score_spread":0.2339152101316925,"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."}}