{"id":"W2913027812","doi":"10.1002/ana.25426","title":"Variation in <i>SIPA1L2</i> is correlated with phenotype modification in Charcot– Marie– Tooth disease type 1A","year":2019,"lang":"en","type":"article","venue":"Annals of Neurology","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":45,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Center for Advancing Translational Sciences; National Institute of Neurological Disorders and Stroke; Medical Research Council; National Institutes of Health; Medical Research Council Canada; Eunice Kennedy Shriver National Institute of Child Health and Human Development; University College London; National Institute for Health and Care Research; Muscular Dystrophy Association; Charcot-Marie-Tooth Association","keywords":"Gene knockdown; Chromatin immunoprecipitation; Immunoprecipitation; Phenotype; Genetics; Genetic variation; Biology; Copy-number variation; Gene; Gene expression; Medicine; Molecular biology; Genome","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003104006,0.000513704,0.0002982958,0.0008125466,0.0003389888,0.0003589662,0.0002878856,0.0004673521,0.002859287],"category_scores_gemma":[0.0005936105,0.0001534128,0.0003673485,0.0006717162,0.0002697496,0.00009884158,0.0003008618,0.0004302065,0.0004256956],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001716925,"about_ca_system_score_gemma":0.00007624274,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009202369,"about_ca_topic_score_gemma":0.0009704813,"domain_scores_codex":[0.9996661,0.00005555241,0.00003497744,0.0001573843,0.00005822136,0.00002765181],"domain_scores_gemma":[0.9994597,0.0001228865,0.0002669183,0.00003608339,0.00003430243,0.00008010703],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00410118,0.0002373876,0.5162171,0.0001638123,0.0008744915,0.005215931,0.0005022059,0.001108165,0.4566272,0.0003517015,0.00156878,0.01303207],"study_design_scores_gemma":[0.00004997212,0.0002149326,0.9819384,0.00002152753,0.0001766658,0.005811134,0.00009977667,0.001717746,0.008748803,0.0001440696,0.001055473,0.00002162395],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998421,0.0001587234,0.0004137137,0.00004372202,0.000009465518,0.00000650073,0.0006454455,0.00002261505,0.0002786889],"genre_scores_gemma":[0.9986252,0.00005508098,0.0004097155,0.0000474466,0.00001155786,0.00001139802,0.0005088851,0.0000214328,0.0003093975],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002859287,"threshold_uncertainty_score":0.009565294,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06774442585708847,"score_gpt":0.2941810837806736,"score_spread":0.2264366579235851,"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."}}