{"id":"W2157783878","doi":"10.1038/ng.2253","title":"Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan","year":2012,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Heat shock proteins research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":212,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; Mount Sinai Hospital; University of Toronto","funders":"Hersenstichting; Medical Research Council; ZonMw; National Health and Medical Research Council; European Commission; Wellcome Trust","keywords":"Biology; Dystroglycan; Glycosylation; Genetics; Zebrafish; Gene; Phenotype; Muscular dystrophy; Laminin","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000167262,0.001849489,0.0004117874,0.00120684,0.000385983,0.0003685893,0.0004156887,0.001003686,0.001983278],"category_scores_gemma":[0.0007846005,0.000390808,0.0005332375,0.0009058866,0.001133512,0.0002673913,0.0007014655,0.0006025775,0.0005665541],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005434352,"about_ca_system_score_gemma":0.0003786294,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001167765,"about_ca_topic_score_gemma":0.0013441,"domain_scores_codex":[0.9998177,0.00002727017,0.00004158802,0.00003020894,0.00005829443,0.00002497821],"domain_scores_gemma":[0.9994965,0.0001361936,0.0001681382,0.00002980633,0.00002027086,0.0001491242],"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":[0.001993696,0.0002883364,0.03444422,0.0003003885,0.0003920335,0.2453031,0.0007515957,0.002365435,0.6942006,0.004012748,0.00159854,0.01434931],"study_design_scores_gemma":[0.0007288054,0.001178391,0.2135158,0.0001763369,0.0008291426,0.3940069,0.0009480491,0.01092183,0.3600198,0.004610241,0.01289479,0.0001699387],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968629,0.0002452812,0.001223711,0.0001210581,0.00004782233,0.00002001979,0.0002685022,0.00006538121,0.001145497],"genre_scores_gemma":[0.9979243,0.0001774016,0.0009756113,0.00004038389,0.00003011635,0.000012719,0.000240604,0.00002426478,0.0005745122],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001983278,"threshold_uncertainty_score":0.006634772,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01100336376925664,"score_gpt":0.3025088702623575,"score_spread":0.2915055064931009,"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."}}