{"id":"W3135438741","doi":"10.1136/jmedgenet-2020-107427","title":"De novo <i>TRPV4</i> Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy","year":2021,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Ion Channels and Receptors","field":"Neuroscience","cited_by":17,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University and Génome Québec Innovation Centre; McGill University Health Centre; Ontario Genomics; McGill University","funders":"Conselho Nacional de Desenvolvimento Científico e Tecnológico","keywords":"TRPV4; Channelopathy; Germline; Biology; Germline mutation; Loss function; Phenotype; Genetics; Pathology; Medicine; Transient receptor potential channel; Mutation; 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":[0.0001027605,0.001218807,0.0004234423,0.0006736988,0.0005162297,0.0004262404,0.0004296325,0.001553353,0.001735918],"category_scores_gemma":[0.0005251427,0.0003519862,0.0004513162,0.0002670601,0.0006229265,0.0002147622,0.0004612219,0.0006158674,0.0004199803],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003327067,"about_ca_system_score_gemma":0.0002213917,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009592688,"about_ca_topic_score_gemma":0.0009264082,"domain_scores_codex":[0.9997792,0.00001293553,0.00001925378,0.0000872675,0.0000393198,0.00006198339],"domain_scores_gemma":[0.9997204,0.00005399781,0.00009074352,0.00001791326,0.00002048406,0.00009652811],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0003145747,0.0001018103,0.02034895,0.00008162545,0.00005042312,0.8415344,0.0003683092,0.0001815283,0.1314613,0.0003760424,0.0005948385,0.004586386],"study_design_scores_gemma":[0.00006856374,0.0002956085,0.04496787,0.00001680445,0.00006275757,0.9426672,0.0001213515,0.0004343768,0.009561314,0.0001775842,0.001603595,0.00002294223],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9967406,0.0003927804,0.0008718762,0.0002469951,0.00006684476,0.00004203044,0.0002064934,0.000106692,0.001325604],"genre_scores_gemma":[0.9983266,0.0001434024,0.000459041,0.0001150411,0.00007208512,0.000007546497,0.00008680992,0.00001677897,0.0007725634],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001735918,"threshold_uncertainty_score":0.005807221,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0175487450752992,"score_gpt":0.2418641966622342,"score_spread":0.224315451586935,"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."}}