{"id":"W2143644834","doi":"10.1016/j.ymgmr.2015.10.010","title":"LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy","year":2015,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism Reports","topic":"Lipid metabolism and biosynthesis","field":"Biochemistry, Genetics and Molecular Biology","cited_by":26,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; Université de Montréal","funders":"","keywords":"Rhabdomyolysis; Frameshift mutation; Creatine kinase; Internal medicine; Endocrinology; Medicine; Exon; Mutation; Biology; Genetics; Gene","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":[0.0002894477,0.002324515,0.0005911607,0.001139598,0.0005213465,0.0004084907,0.0007529993,0.001838909,0.001300823],"category_scores_gemma":[0.001158423,0.0006124279,0.0004299876,0.0006045907,0.0008942824,0.0004520475,0.0006259889,0.001295514,0.0004221019],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000785463,"about_ca_system_score_gemma":0.0004416681,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001237545,"about_ca_topic_score_gemma":0.001444825,"domain_scores_codex":[0.9996269,0.00005519536,0.00003839458,0.0001192304,0.00007128452,0.00008899194],"domain_scores_gemma":[0.9995909,0.00009867907,0.0001127664,0.00001817672,0.00001876793,0.0001606728],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0002822077,0.0001058533,0.01234158,0.00008384309,0.00002960182,0.9696852,0.0002973975,0.0002611546,0.01301902,0.0002483715,0.0003847898,0.003261037],"study_design_scores_gemma":[0.00008329238,0.0005066831,0.02592142,0.00002540957,0.00004562979,0.9645524,0.00008385067,0.000543105,0.006952801,0.0002563558,0.00100894,0.00002008087],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9927974,0.001141291,0.001955683,0.001046328,0.00008121527,0.0001094781,0.0002323567,0.00008691457,0.002549224],"genre_scores_gemma":[0.9978533,0.0003787719,0.0006520925,0.0001567296,0.00008839427,0.00002549761,0.0001350479,0.00001468743,0.0006954392],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002324515,"threshold_uncertainty_score":0.005699039,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01128420536887183,"score_gpt":0.2233437554608146,"score_spread":0.2120595500919428,"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."}}