{"id":"W4308843689","doi":"10.21203/rs.3.rs-2256298/v1","title":"FINCA syndrome beyond pulmonary affection: biallelic NHLRC2 variants in eight families with intellectual disability and epilepsy","year":2022,"lang":"en","type":"preprint","venue":"Research Square","topic":"Peptidase Inhibition and Analysis","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"London Health Sciences Centre","funders":"Berlin Institute of Health; Genome British Columbia; Genome Alberta; Canadian Institutes of Health Research; Genome Canada; Ontario Genomics; Ontario Genomics Institute","keywords":"Intellectual disability; Epilepsy; Hypotonia; Phenotype; Dystonia; Microcephaly; Medicine; Missense mutation; Pulmonary fibrosis; Exome sequencing; Pathology; Genetics; Pediatrics; Biology; Fibrosis; Psychiatry","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":[0.0002244846,0.001491752,0.0004712867,0.001408577,0.001011056,0.0003525957,0.0004145097,0.0007144868,0.002567254],"category_scores_gemma":[0.0009579326,0.0002580571,0.0004868247,0.0006364966,0.0008127483,0.000179022,0.0006185212,0.0003904373,0.000226877],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004592982,"about_ca_system_score_gemma":0.0004011421,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004455341,"about_ca_topic_score_gemma":0.004783893,"domain_scores_codex":[0.9997117,0.00003663059,0.00003795248,0.00009391295,0.00004870862,0.00007104107],"domain_scores_gemma":[0.9996629,0.0001364386,0.0000677093,0.00002282609,0.00003271813,0.00007739217],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0007454659,0.0003042435,0.2385471,0.00009534449,0.0001649867,0.6960867,0.001901615,0.0005494991,0.03632242,0.0004260421,0.0006326276,0.02422392],"study_design_scores_gemma":[0.0001299105,0.0007336653,0.3282298,0.00007337552,0.0002704456,0.6567118,0.000863218,0.0008975752,0.007498592,0.0003423212,0.004171687,0.00007769958],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983151,0.0002093092,0.0003192932,0.00006756405,0.000009602188,0.00001702741,0.00009431317,0.00001494315,0.0009529481],"genre_scores_gemma":[0.9991737,0.0001098025,0.0002305063,0.00003728088,0.00001337679,0.000009067716,0.00008614178,0.000005563091,0.0003346131],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004455341,"threshold_uncertainty_score":0.0088588,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04018987688952479,"score_gpt":0.3533390714359825,"score_spread":0.3131491945464577,"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."}}