{"id":"W3083530107","doi":"10.1093/hmg/ddaa198","title":"Biallelic variants in the small optic lobe calpain CAPN15 are associated with congenital eye anomalies, deafness and other neurodevelopmental deficits","year":2020,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Calpain Protease Function and Regulation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Sherbrooke; McGill University; Montreal Neurological Institute and Hospital","funders":"Canadian Institutes of Health Research; Fondation du Grand défi Pierre Lavoie; King Salman Center for Disability Research; Wellcome Trust; King Saud University; Université de Sherbrooke; Oxford Brookes University; Baillie Gifford","keywords":"Microphthalmia; Coloboma; Eye development; Biology; Anophthalmia; Genetics; Phenotype; Calpain; PAX6; Zebrafish; Gene; Transcription factor","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001754467,0.0009547926,0.000292778,0.001227469,0.0004071811,0.0002324449,0.0003619137,0.0005360086,0.002551],"category_scores_gemma":[0.0003975535,0.0002265544,0.0002576726,0.0005414506,0.0005637624,0.0001374774,0.0005380848,0.0002912623,0.000179995],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002304197,"about_ca_system_score_gemma":0.0001846387,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001758561,"about_ca_topic_score_gemma":0.003313646,"domain_scores_codex":[0.9996611,0.00003471487,0.00004027832,0.0001406432,0.00008866248,0.00003456242],"domain_scores_gemma":[0.9997688,0.00004639483,0.00009871188,0.00001629724,0.00001441713,0.00005538449],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0009208199,0.0001625748,0.1512498,0.0001762523,0.0003794052,0.04702669,0.0007344112,0.0004930486,0.780135,0.001106632,0.0006962655,0.0169192],"study_design_scores_gemma":[0.0000714091,0.0004925062,0.7839451,0.00005167397,0.0003414892,0.1417839,0.0003177411,0.001596399,0.06759695,0.0003950675,0.003365292,0.00004241434],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972589,0.0004175691,0.001146054,0.00004507996,0.0000122892,0.00001598562,0.0002762299,0.00002887923,0.0007990458],"genre_scores_gemma":[0.9982955,0.0001473685,0.0006738156,0.00003713422,0.00001078086,0.000005251911,0.0001730511,0.000008245067,0.0006487831],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002551,"threshold_uncertainty_score":0.008533895,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01987322427857603,"score_gpt":0.2203791624003011,"score_spread":0.2005059381217251,"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."}}