{"id":"W4376641890","doi":"10.1038/s41431-023-01382-0","title":"Broadening the phenotypic and molecular spectrum of FINCA syndrome: Biallelic NHLRC2 variants in 15 novel individuals","year":2023,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa; London Health Sciences Centre; Western University","funders":"National Institute of General Medical Sciences; National Institute of Neurological Disorders and Stroke; National Human Genome Research Institute","keywords":"Phenotype; Hypotonia; Missense mutation; Intellectual disability; Compound heterozygosity; Genetics; Epilepsy; Allele; Biology; Exome sequencing; Global developmental delay; Exome; Genotype; Medicine; Bioinformatics; Gene; Neuroscience","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":[0.0003053818,0.001372269,0.000590499,0.001476661,0.0006116256,0.0004525267,0.0004294332,0.0007971024,0.002446594],"category_scores_gemma":[0.0009854734,0.0002629686,0.0005262812,0.0006111192,0.0005820193,0.0002244883,0.0008037002,0.0003319406,0.0003257199],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002535839,"about_ca_system_score_gemma":0.0001929017,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00178736,"about_ca_topic_score_gemma":0.002019384,"domain_scores_codex":[0.9995253,0.00006865018,0.00008536047,0.0001824253,0.00006967383,0.00006861798],"domain_scores_gemma":[0.9997181,0.0001156452,0.00005968472,0.00002496905,0.00002267902,0.00005887428],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001282635,0.0002837921,0.4780259,0.000228664,0.0004515936,0.2942321,0.003981554,0.001124117,0.1694906,0.0007345004,0.0008351125,0.04932949],"study_design_scores_gemma":[0.000111109,0.0004635037,0.5132108,0.00009802156,0.0004303638,0.4660288,0.0005856225,0.001152547,0.01230797,0.0005043324,0.005010973,0.00009605472],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983021,0.0002697827,0.0005979569,0.00003632338,0.00000610915,0.00001312112,0.000147553,0.00002632211,0.0006007067],"genre_scores_gemma":[0.9987825,0.0001354671,0.000591176,0.00004566304,0.00001300638,0.00001013368,0.0001896835,0.0000119932,0.0002204482],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002446594,"threshold_uncertainty_score":0.008184671,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0154221551170543,"score_gpt":0.2399289842008676,"score_spread":0.2245068290838133,"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."}}