{"id":"W2754543134","doi":"10.1002/ajmg.a.38400","title":"Compound heterozygous <i>TRPV4</i> mutations in two siblings with a complex phenotype including severe intellectual disability and neuropathy","year":2017,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Ion Channels and Receptors","field":"Neuroscience","cited_by":24,"is_retracted":false,"has_abstract":true,"ca_institutions":"Canada's Michael Smith Genome Sciences Centre; Victoria General Hospital; BC Children's Hospital; Simon Fraser University; University of British Columbia","funders":"","keywords":"TRPV4; Phenotype; Compound heterozygosity; Loss function; Intellectual disability; Genetics; Mutation; Loss of heterozygosity; Disease; Familial hemiplegic migraine; Biology; Clinical phenotype; Medicine; Transient receptor potential channel; Gene; Pathology; Allele","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":["sts"],"consensus_categories":[],"category_scores_codex":[0.0005242391,0.0001528183,0.0003776436,0.00007810273,0.0003364068,0.0001280703,0.0005453815,0.00002936443,0.00007639669],"category_scores_gemma":[0.001649814,0.000109629,0.00005314827,0.0002005729,0.002769199,0.00009622226,0.0002234804,0.0004948225,0.000003792995],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003293547,"about_ca_system_score_gemma":0.0001251057,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006890719,"about_ca_topic_score_gemma":0.0001043971,"domain_scores_codex":[0.9979635,0.0002523854,0.0004649718,0.0002517987,0.0007925391,0.0002747948],"domain_scores_gemma":[0.9981883,0.0006989856,0.0004932374,0.0001848607,0.00007085418,0.0003637718],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"simulation_or_modeling","study_design_scores_codex":[0.003031995,0.003491736,0.2181961,0.0001935424,0.0001617569,0.003321425,0.04167277,0.00642629,0.09581564,0.0002627961,0.002586193,0.6248397],"study_design_scores_gemma":[0.05887717,0.04801187,0.2819948,0.005254562,0.0008673829,0.04383337,0.02938098,0.3190013,0.08002833,0.00631222,0.1185357,0.007902419],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.995795,0.00004473923,0.0006931841,0.002910028,0.0003187154,0.00009227269,0.000005120755,0.000007578356,0.000133412],"genre_scores_gemma":[0.9980116,0.0003859384,0.0005315106,0.0008058352,0.0002375817,0.000001925849,6.035146e-7,0.00001763548,0.000007392248],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6169373,"threshold_uncertainty_score":0.9999447,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07161875540833654,"score_gpt":0.3540068162891546,"score_spread":0.2823880608808181,"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."}}