{"id":"W2888850649","doi":"10.1371/journal.pgen.1007602","title":"Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility","year":2018,"lang":"en","type":"article","venue":"PLoS Genetics","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":90,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"FP7 Ideas: European Research Council; European Research Council; Radboud Universitair Medisch Centrum; Deutsche Forschungsgemeinschaft","keywords":"Biology; Cilium; Situs inversus; Nonsense mutation; Genetics; Compound heterozygosity; Ciliopathies; Male infertility; Motile cilium; Infertility; Intraflagellar transport; Cell biology; Mutation; Flagellum; Anatomy; Missense mutation; Phenotype; Gene","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":[0.00009596916,0.0008757972,0.0002778044,0.0006329929,0.0002383716,0.0001866076,0.0002300143,0.0003707441,0.002748137],"category_scores_gemma":[0.0001838745,0.0001640296,0.0003263325,0.0002052027,0.0003999183,0.00009376727,0.000434253,0.0002626246,0.0005596496],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000216643,"about_ca_system_score_gemma":0.000204526,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007835254,"about_ca_topic_score_gemma":0.001843151,"domain_scores_codex":[0.9998847,0.0000106796,0.00001511351,0.00003497742,0.00003758356,0.00001694494],"domain_scores_gemma":[0.9998769,0.00001627951,0.00005253336,0.000007848132,0.000009332687,0.00003717248],"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":[0.0002297007,0.00005432346,0.03319608,0.000121122,0.00006426514,0.009122824,0.0001766888,0.000364412,0.9450115,0.0003972673,0.0005364579,0.01072541],"study_design_scores_gemma":[0.00009467369,0.0007343235,0.4357039,0.0001010917,0.0002226408,0.08871245,0.0003727657,0.003391546,0.4541914,0.0007813851,0.01562518,0.00006852925],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.996016,0.0006011334,0.001469428,0.0001079317,0.0000168103,0.00001550535,0.0006371447,0.00009990305,0.001036068],"genre_scores_gemma":[0.9965786,0.000350141,0.0008144241,0.00003953087,0.000008091064,0.000009637054,0.0005991572,0.00001650259,0.001583913],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002748137,"threshold_uncertainty_score":0.00919342,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01775716409363564,"score_gpt":0.256761120734863,"score_spread":0.2390039566412274,"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."}}