{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002146743,0.0001102878,0.0001225058,0.0001046625,0.00003552443,0.000007694976,0.00009257862,0.0003805804,0.000009789114],"category_scores_gemma":[0.0001644299,0.000111468,0.00003346345,0.0001808694,0.00007322338,0.000005190303,0.00009595237,0.0002763049,0.000003041934],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002872432,"about_ca_system_score_gemma":0.00006986144,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002144956,"about_ca_topic_score_gemma":0.0000702903,"domain_scores_codex":[0.9990961,0.00008120512,0.0001696185,0.0001983462,0.000174865,0.0002798945],"domain_scores_gemma":[0.9994882,0.00002102454,0.00004384494,0.0002364947,0.0001063292,0.000104074],"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":[0.00008391296,0.0001756477,0.4901265,0.00008407963,0.00008585042,0.00001009565,0.0003704152,0.000206976,0.5036052,0.00008031991,0.0001014762,0.00506949],"study_design_scores_gemma":[0.000652781,0.0003404024,0.5139335,0.00002275464,0.00002499131,0.00009378853,0.00008146636,0.0001650001,0.4814807,0.0001103291,0.002896474,0.000197742],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9932796,0.005645363,0.000327455,0.00004836664,0.0000716097,0.0003195459,0.00002938118,0.00000455027,0.0002741644],"genre_scores_gemma":[0.9978138,0.0002479658,0.001629762,0.00003006504,0.00008037481,0.00002382707,0.00006860715,0.00001918391,0.00008640057],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02380706,"threshold_uncertainty_score":0.4545533,"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."}}