{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001312373,0.0008228011,0.00132849,0.001439085,0.0005397954,0.001588395,0.0006713166,0.002091187,0.001691052],"category_scores_gemma":[0.001324033,0.0002520875,0.0005064242,0.0006614276,0.001580624,0.002257901,0.001329907,0.003790636,0.0009843211],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00108979,"about_ca_system_score_gemma":0.001192871,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005784781,"about_ca_topic_score_gemma":0.001331857,"domain_scores_codex":[0.9995574,0.0001160513,0.00008516156,0.00006427093,0.0001388154,0.00003823034],"domain_scores_gemma":[0.9994974,0.0002306603,0.00005471917,0.00002476011,0.0001252254,0.00006718516],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0003898499,0.0001655519,0.001112495,0.005455995,0.0001466339,0.002107426,0.0004563818,0.0004786795,0.01016128,0.04787283,0.09924369,0.8324091],"study_design_scores_gemma":[0.00009203774,0.0003471491,0.00207864,0.00531359,0.0001491876,0.01268664,0.000479521,0.0003512884,0.001853768,0.04441157,0.9321811,0.00005561424],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.001186453,0.9658212,0.002047555,0.02486312,0.002495917,0.0000153212,0.00003508643,0.00004927402,0.003486023],"genre_scores_gemma":[0.01149448,0.9611011,0.004326225,0.01336389,0.005345747,0.00004827633,0.000095236,0.00002844248,0.004196679],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.002091187,"threshold_uncertainty_score":0.007907093,"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."}}