{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004542092,0.0001553433,0.0003007487,0.00005285289,0.000136685,0.00006445769,0.0003146246,0.0001421359,0.0001172939],"category_scores_gemma":[0.0006071798,0.00009776201,0.0001041685,0.0001593694,0.0002998668,0.00006460814,0.0002415133,0.000440802,0.000001049789],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001382926,"about_ca_system_score_gemma":0.00062529,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001005782,"about_ca_topic_score_gemma":0.000003034968,"domain_scores_codex":[0.9978383,0.0002912527,0.0005392275,0.0001871921,0.0008616155,0.0002824824],"domain_scores_gemma":[0.9987459,0.0002222103,0.0003501235,0.0001258496,0.0000848982,0.0004710068],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00004562614,0.0002272615,0.0002480265,0.0001137556,0.00001284959,0.0007357924,0.002685909,0.00001028592,0.9854758,0.00007211861,0.002955316,0.00741725],"study_design_scores_gemma":[0.001257109,0.0003494748,0.001717875,0.0002238693,0.00006203621,0.005461953,0.0005983108,0.0004306056,0.9645261,0.0001079441,0.02508627,0.0001784678],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9875806,0.00347808,0.0006110289,0.007079977,0.001080897,0.00007412537,0.00003494612,0.000005010748,0.00005536258],"genre_scores_gemma":[0.977632,0.01847619,0.0002043545,0.002566786,0.0004697795,8.59879e-7,5.230014e-7,0.0000206637,0.0006288036],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02213095,"threshold_uncertainty_score":0.3986619,"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."}}