{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001915295,0.001515714,0.0004493523,0.0008975215,0.0002639747,0.0003579441,0.0002862664,0.0008435899,0.002101781],"category_scores_gemma":[0.0002682457,0.0004496668,0.0005116094,0.0004753155,0.0008063641,0.0002221635,0.0007697234,0.0006670595,0.0005282505],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002032187,"about_ca_system_score_gemma":0.0003095141,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006163116,"about_ca_topic_score_gemma":0.0007522416,"domain_scores_codex":[0.9996706,0.00005282804,0.00004961723,0.0001097683,0.00008474171,0.00003250336],"domain_scores_gemma":[0.9996854,0.00005147406,0.0001529058,0.0000333916,0.0000102591,0.0000665631],"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":[0.0003767858,0.00008275173,0.003071169,0.0001637997,0.0001371166,0.01130473,0.0001356169,0.0004424828,0.9765707,0.000746863,0.000383328,0.006584438],"study_design_scores_gemma":[0.0004929311,0.0009555144,0.1196368,0.0001642312,0.0006341581,0.2003748,0.0004527188,0.004801727,0.6517047,0.001818577,0.01884596,0.0001178584],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9837238,0.002747201,0.008654122,0.0003244729,0.00007724339,0.00008150798,0.001495368,0.0004549717,0.002441341],"genre_scores_gemma":[0.9877439,0.001868133,0.007038657,0.0001740772,0.00003631406,0.00005679323,0.0007895479,0.00009091125,0.00220167],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002101781,"threshold_uncertainty_score":0.007031143,"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."}}