{"id":"W2607173607","doi":"10.1093/hmg/ddx110","title":"P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye","year":2017,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":58,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke; National Human Genome Research Institute; National Heart, Lung, and Blood Institute; National Institutes of Health","keywords":"Connective tissue; Biology; Connective Tissue Disorder; Pathology; Frameshift mutation; Joint hypermobility; Compound heterozygosity; Connective tissue disease; Skeletal muscle; Anatomy; Mutation; Genetics; Medicine","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":[0.0001209307,0.001736868,0.0003831824,0.000998273,0.000657268,0.0003361082,0.0004813814,0.0009916764,0.002586513],"category_scores_gemma":[0.0005135542,0.0002795706,0.0002640809,0.0004921136,0.0006727881,0.0001886866,0.0007641806,0.0005669357,0.0005039501],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003008406,"about_ca_system_score_gemma":0.0003007175,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008526897,"about_ca_topic_score_gemma":0.0009976892,"domain_scores_codex":[0.9997151,0.00002125911,0.00002390956,0.0001087142,0.00008265495,0.00004815569],"domain_scores_gemma":[0.9996951,0.00006971943,0.00009990868,0.00001655375,0.0000153796,0.0001033997],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0008659711,0.000240466,0.04487669,0.0003655677,0.000215666,0.5246071,0.0006933804,0.0006419613,0.3759243,0.001405739,0.002883544,0.04727961],"study_design_scores_gemma":[0.0001307801,0.0005032878,0.1089369,0.00006142232,0.0001469863,0.8334069,0.0001802699,0.000785795,0.04373936,0.0007190265,0.0113324,0.00005684669],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.992976,0.002261054,0.001496498,0.0002359704,0.00005229172,0.00005101871,0.0008019705,0.0001414006,0.001983955],"genre_scores_gemma":[0.9948709,0.0009337767,0.001412114,0.00009269218,0.00007006335,0.00002887705,0.0003846917,0.00003030711,0.002176589],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002586513,"threshold_uncertainty_score":0.008652747,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01722477439718095,"score_gpt":0.3252007516638187,"score_spread":0.3079759772666378,"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."}}