{"id":"W2573639570","doi":"10.1371/journal.pgen.1006470","title":"Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and Mice","year":2017,"lang":"en","type":"article","venue":"PLoS Genetics","topic":"Cleft Lip and Palate Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":31,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital Research Institute of Manitoba; University of Manitoba","funders":"Canadian Institutes of Health Research; King Abdulaziz City for Science and Technology; Medical Research Council; Manitoba Health Research Council","keywords":"Biology; Craniofacial; Gene; Genetics; Haploinsufficiency; Phenotype","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002222686,0.0001058227,0.0001737302,0.000083185,0.0001130037,0.00005752241,0.000137403,0.0001195619,0.000004977546],"category_scores_gemma":[0.0002176749,0.000112181,0.00002621559,0.0000403791,0.0001377643,0.000005765604,0.0001849586,0.000116047,9.812562e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009257111,"about_ca_system_score_gemma":0.00005183517,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005040224,"about_ca_topic_score_gemma":0.0005895765,"domain_scores_codex":[0.9991031,0.00006101889,0.0002533247,0.0002587671,0.0001054763,0.0002182623],"domain_scores_gemma":[0.9995108,0.00003259648,0.000101763,0.0002580349,0.00003918624,0.00005760244],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00007359918,0.0001055317,0.6305777,0.0001281018,0.00003199866,0.00004272204,0.0005553798,0.00002621447,0.3675089,0.00001845678,0.00000890057,0.0009225484],"study_design_scores_gemma":[0.006732274,0.001011112,0.8363513,0.0002778637,0.0001005682,0.00006615587,0.0006660465,0.005104682,0.1480577,0.0002347341,0.0007611457,0.000636465],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989377,0.0003372127,0.000005513412,0.00009896115,0.00003974741,0.0002115411,0.00002672517,0.000002208046,0.000340424],"genre_scores_gemma":[0.9992188,0.0004203423,0.0001762325,0.000015819,0.00003776906,0.000008652334,0.00001756451,0.00001445109,0.00009038558],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2194512,"threshold_uncertainty_score":0.4574609,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04583885328399395,"score_gpt":0.3214086153887837,"score_spread":0.2755697621047898,"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."}}