{"id":"W2993289231","doi":"","title":"Phenotypic Variability and Incomplete Penetrance Are Features of GDF6 Mutations","year":2008,"lang":"en","type":"article","venue":"Investigative Ophthalmology & Visual Science","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Alberta","funders":"","keywords":"Penetrance; Phenotype; Genetics; Biology; Evolutionary biology; 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":[0.000651638,0.0007019188,0.0005580266,0.001246198,0.0002447853,0.0004375929,0.0005639308,0.0007111805,0.002315839],"category_scores_gemma":[0.003927895,0.0002717983,0.000482584,0.0006368509,0.0005281277,0.0003417069,0.0005481199,0.0006798047,0.0004132093],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001933824,"about_ca_system_score_gemma":0.0001336354,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007240332,"about_ca_topic_score_gemma":0.0005718619,"domain_scores_codex":[0.9991216,0.0001229528,0.0001274184,0.00026288,0.0002782941,0.00008680583],"domain_scores_gemma":[0.9978562,0.0009212844,0.0006695529,0.0002570119,0.0001552355,0.0001406384],"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":[0.001308927,0.0001546529,0.3006228,0.0002695966,0.0003971613,0.06574515,0.001308101,0.003018792,0.5764972,0.001844656,0.001741791,0.04709125],"study_design_scores_gemma":[0.00004494689,0.0001939678,0.5313128,0.0000482047,0.0001440074,0.3939007,0.0003369461,0.003568334,0.06372126,0.001954884,0.004694227,0.00007977195],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9902892,0.0005708189,0.005255785,0.0002196298,0.00002276525,0.00001878653,0.001174757,0.0001770069,0.002271333],"genre_scores_gemma":[0.9969971,0.0001450045,0.001686895,0.00003832938,0.00001724871,0.000009682066,0.000609629,0.00008192271,0.0004141527],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002315839,"threshold_uncertainty_score":0.007747293,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03955474499458125,"score_gpt":0.343283639289292,"score_spread":0.3037288942947107,"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."}}