{"id":"W3005152610","doi":"10.1016/j.exer.2020.107958","title":"The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus","year":2020,"lang":"en","type":"article","venue":"Experimental Eye Research","topic":"melanin and skin pigmentation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":19,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Claire and Amédée Maratier Institute for the Study of Blindness and Visual Disorders, Tel Aviv University; Ministry of Health, State of Israel; Tel Aviv University; Foundation Fighting Blindness","keywords":"Hypoplasia; Nystagmus; Genetics; Medicine; Foveolar cell; Biology; Audiology; Anatomy; Internal medicine","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004389154,0.001962702,0.0005963578,0.002976917,0.002734109,0.0006217669,0.0007517192,0.001188511,0.004185478],"category_scores_gemma":[0.002368342,0.0005667385,0.0007497976,0.001271934,0.001891996,0.0003507244,0.0009977206,0.0005556701,0.0002490382],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008708101,"about_ca_system_score_gemma":0.0006649528,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01328155,"about_ca_topic_score_gemma":0.008561042,"domain_scores_codex":[0.9992569,0.0001431906,0.00009270161,0.0002088115,0.000130034,0.0001683605],"domain_scores_gemma":[0.9987053,0.000610376,0.0002057577,0.0000635848,0.0001183732,0.0002967085],"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":[0.001439224,0.0003864657,0.3416277,0.0001251055,0.0002255439,0.5849777,0.006318315,0.000631633,0.04992815,0.001175025,0.0004510114,0.0127141],"study_design_scores_gemma":[0.000202839,0.001010086,0.459932,0.0001029792,0.0004272994,0.5178469,0.003088339,0.002200003,0.01157413,0.0007285774,0.002763767,0.0001229928],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.99866,0.0001274913,0.0003496142,0.00006647637,0.00001313561,0.00001541776,0.00007906109,0.00001670472,0.0006721531],"genre_scores_gemma":[0.9992636,0.00004387739,0.0002811954,0.00003159715,0.00001012597,0.000008034634,0.00004350405,0.000006767821,0.0003112326],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01328155,"threshold_uncertainty_score":0.02640849,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02987432526895512,"score_gpt":0.3435220050207039,"score_spread":0.3136476797517488,"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."}}