{"id":"W306554400","doi":"10.15173/m.v1i21.801","title":"Human V-ATPase a2 P405L Mutation Results in Cutis Laxa by Affecting V-ATPase Assembly and/or Stability","year":2012,"lang":"en","type":"article","venue":"The Meducator","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; McMaster University","funders":"","keywords":"ATPase; Cutis laxa; Mutation; V-ATPase; Medicine; Biology; Enzyme; Genetics; Biochemistry; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":true,"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":[0.00025203,0.0009293527,0.0004590604,0.0004340748,0.0004058443,0.0004563479,0.0003171077,0.001534708,0.002840298],"category_scores_gemma":[0.0003977453,0.0002263502,0.0006498983,0.0003515944,0.0007280508,0.0002258328,0.0004762371,0.0005172705,0.000884413],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005121837,"about_ca_system_score_gemma":0.0003269615,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00162066,"about_ca_topic_score_gemma":0.001023454,"domain_scores_codex":[0.9996125,0.00007288317,0.00006938654,0.00009335252,0.0001060793,0.00004582288],"domain_scores_gemma":[0.9997656,0.00006767732,0.00006227542,0.00001352184,0.00001548837,0.00007536196],"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":[0.0006097395,0.0001949833,0.003826688,0.000156774,0.00008165598,0.04472486,0.0001447098,0.0004404464,0.9444299,0.0008347406,0.0004859188,0.004069584],"study_design_scores_gemma":[0.000596588,0.001926984,0.05010962,0.0001690658,0.0002800258,0.1874103,0.0004133441,0.005493976,0.7357902,0.001076913,0.01660516,0.000127834],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.995571,0.0005371001,0.001417298,0.0001987528,0.000116426,0.00005085882,0.0004687303,0.0000892275,0.001550531],"genre_scores_gemma":[0.9968138,0.0002137652,0.001021147,0.0001077638,0.00002295485,0.00001505828,0.0003907938,0.00002701162,0.001387721],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002840298,"threshold_uncertainty_score":0.009501755,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03277766756092351,"score_gpt":0.349461382806912,"score_spread":0.3166837152459885,"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."}}