{"id":"W2048097971","doi":"10.1038/ejhg.2012.274","title":"Report of four new patients with protein-truncating mutations in C6orf221/KHDC3L and colocalization with NLRP7","year":2012,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Gestational Trophoblastic Disease Studies","field":"Medicine","cited_by":81,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University Health Centre","funders":"Canadian Institutes of Health Research; McGill University Health Centre; McGill University","keywords":"Biology; Genetics; Frameshift mutation; Gene; Haplotype; Mutation; Allele","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":[0.0002332747,0.00009753981,0.0001873886,0.000127599,0.00004854603,0.000009397592,0.00004041812,0.000008752353,0.00001316833],"category_scores_gemma":[0.0001860908,0.00007037116,0.00001923996,0.000129405,0.00009399751,0.00006593166,0.00002202821,0.00009507495,0.000001230851],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002863474,"about_ca_system_score_gemma":0.0001216175,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002163168,"about_ca_topic_score_gemma":0.000005171693,"domain_scores_codex":[0.9988713,0.00008695764,0.0004740706,0.00008035252,0.0003633215,0.000124047],"domain_scores_gemma":[0.9987049,0.00002765198,0.0005332201,0.00009382833,0.0004873902,0.0001529796],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00023103,0.0002994284,0.9941115,0.0001060884,0.000111138,0.0003060988,0.001727997,0.0009686042,0.000904147,0.00005788886,0.0001763929,0.0009996989],"study_design_scores_gemma":[0.002660691,0.001650516,0.994039,0.0004459388,0.0001616971,0.0002052663,0.0002744072,0.00001886446,0.0002285946,0.0000269764,0.0002116719,0.0000764017],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.996069,0.0001844837,0.002630047,0.00007765152,0.00002397986,0.0002380618,0.000002231327,0.000003897292,0.0007707214],"genre_scores_gemma":[0.9743725,0.00000530702,0.02532542,0.00002417773,0.00009734234,9.200821e-7,0.000009858354,0.00002566333,0.0001388283],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02269537,"threshold_uncertainty_score":0.2869653,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02092020109231257,"score_gpt":0.2544779898751346,"score_spread":0.233557788782822,"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."}}