{"id":"W4392016091","doi":"10.3390/biom14030256","title":"The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments","year":2024,"lang":"en","type":"article","venue":"Biomolecules","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"Australasian Gynaecological Endoscopy and Surgery Society; Canadian Institutes of Health Research; Alberta Innovates; Canada Foundation for Innovation; Women and Children's Health Research Institute; Ministry of Advanced Education, Government of Alberta; BC Children’s Hospital Foundation; Alberta Innovates - Health Solutions; Rare Disease Foundation","keywords":"Disease; Mechanism (biology); Clinical trial; Phenotype; Bioinformatics; Genetic heterogeneity; Medicine; Computational biology; Clinical phenotype; Weakness; Dysferlin; Biology; Genetics; Gene; Pathology","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001098958,0.0001391186,0.00009845365,0.00001805492,0.0001765989,0.0000606953,0.0001109973,0.00009621561,0.000002177693],"category_scores_gemma":[0.00006247185,0.00009447312,0.0001218549,0.00003309575,0.0003425117,0.000002200597,0.00006012976,0.00004276305,0.000006131183],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003547141,"about_ca_system_score_gemma":0.00006528693,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000004409564,"about_ca_topic_score_gemma":0.00001707399,"domain_scores_codex":[0.9991286,0.00007109268,0.0001654897,0.0003872459,0.00004934208,0.0001982245],"domain_scores_gemma":[0.9995797,0.00006255364,0.00002410334,0.0002233996,0.00001535868,0.00009489257],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"theoretical_or_conceptual","study_design_gemma":"theoretical_or_conceptual","study_design_scores_codex":[0.003159574,0.000736492,0.00460196,0.0005401847,0.002036013,0.0001146314,0.0002005966,0.0000183615,0.3439955,0.3503508,0.01018356,0.2840624],"study_design_scores_gemma":[0.007205438,0.007640319,0.132301,0.0001987234,0.001631528,0.0001199015,0.001407501,0.01333026,0.1773117,0.5045261,0.1515983,0.0027292],"study_design_candidate":"theoretical_or_conceptual","study_design_consensus":"theoretical_or_conceptual","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9550379,0.03090929,0.01154409,0.001239028,0.0003925773,0.0005148276,0.00007891234,0.00003666112,0.0002467213],"genre_scores_gemma":[0.9958076,0.002593345,0.0006113993,0.0001494815,0.0002073858,0.0001219671,0.00008410737,0.00002088057,0.0004038605],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2813332,"threshold_uncertainty_score":0.3852502,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03363064606749271,"score_gpt":0.2987747690235384,"score_spread":0.2651441229560457,"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."}}