{"id":"W2048465186","doi":"10.1111/j.1399-0004.2007.00790.x","title":"Loss‐of‐function mutations in the Na <sub>v</sub> 1.7 gene underlie congenital indifference to pain in multiple human populations","year":2007,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Ion channel regulation and function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":457,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; Memorial University of Newfoundland; Montreal Heart Institute; Child and Family Research Institute; Université de Montréal; Xenon Pharmaceuticals (Canada)","funders":"","keywords":"Loss function; Genetics; Locus (genetics); Haplotype; Gene; Phenotype; Sodium channel; Biology; Mutation; Candidate gene; Erythromelalgia; Disease gene identification; Genotype; Neuroscience; Sodium; Chemistry","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":[0.0002361214,0.0006320417,0.0005422834,0.001098631,0.000493502,0.0003109311,0.0004298825,0.0004009012,0.002324239],"category_scores_gemma":[0.001043526,0.000232495,0.0002278892,0.0005146707,0.0006229574,0.0001798431,0.0006028004,0.0003579277,0.0002379849],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001803132,"about_ca_system_score_gemma":0.0001704502,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009158022,"about_ca_topic_score_gemma":0.00128092,"domain_scores_codex":[0.9996188,0.00006124326,0.0000426412,0.0001535245,0.00008402137,0.00003971418],"domain_scores_gemma":[0.9996588,0.0001048339,0.0001240948,0.00002671359,0.00002884483,0.0000567332],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002123661,0.0002916396,0.5089933,0.0001722595,0.0005041609,0.04591342,0.001741954,0.0009572111,0.3870664,0.001633233,0.0008515439,0.04975121],"study_design_scores_gemma":[0.000266763,0.001081156,0.7959697,0.00009342453,0.0004961959,0.1634454,0.0007067354,0.001967523,0.03060882,0.001294024,0.003987783,0.00008242736],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986632,0.000242421,0.0005758435,0.00003602793,0.000004571634,0.000009402355,0.00007689139,0.00001067462,0.000381007],"genre_scores_gemma":[0.998723,0.0002569833,0.0005677693,0.00004071564,0.00001281764,0.000007751192,0.0001586818,0.000009911033,0.0002222415],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002324239,"threshold_uncertainty_score":0.007775426,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08199846943208529,"score_gpt":0.3486516719434328,"score_spread":0.2666532025113476,"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."}}