{"id":"W4393313477","doi":"10.1002/ajmg.a.63595","title":"Importance of the biochemical investigations for the functional characterization of a <scp> <i>NPC1</i> </scp> variant identified by exome sequencing","year":2024,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Women and Children’s Health Research Institute; University of Alberta Hospital; Alberta Hospital Edmonton; University of Alberta","funders":"","keywords":"NPC1; Phenotype; Exome sequencing; Niemann–Pick disease; Microcephaly; Lysosomal storage disease; Compound heterozygosity; Endosome; Niemann–Pick disease, type C; Biology; Leukodystrophy; Genetics; Gene; Disease; Medicine; Cholesterol; Endocrinology; Internal 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":[0.0005272012,0.0007290151,0.0004464139,0.001229997,0.0003694623,0.0006529964,0.0004393225,0.00119299,0.001338155],"category_scores_gemma":[0.00210216,0.0001767568,0.0004059105,0.0003571447,0.0005636818,0.0006680405,0.0003450939,0.001043852,0.0009334076],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002605253,"about_ca_system_score_gemma":0.0003329672,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001161714,"about_ca_topic_score_gemma":0.0006234557,"domain_scores_codex":[0.9995872,0.00008407306,0.000104916,0.00006955678,0.0001075553,0.0000466283],"domain_scores_gemma":[0.9990209,0.0004124301,0.0001382941,0.00008980119,0.0002023784,0.0001362479],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0005625105,0.0002106845,0.1255711,0.0003952347,0.000111186,0.3324092,0.0005268375,0.001081967,0.4692618,0.002672936,0.00340387,0.06379269],"study_design_scores_gemma":[0.00004167058,0.000316857,0.1013184,0.0003107791,0.0002271153,0.6531429,0.0008701871,0.005329976,0.2022303,0.00416728,0.03196628,0.00007813206],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9483594,0.01365429,0.01637445,0.006676482,0.0005262001,0.0001375953,0.001084808,0.0005689407,0.01261784],"genre_scores_gemma":[0.9818819,0.002758367,0.01219223,0.00115384,0.0002473498,0.00002349922,0.0005766273,0.0000726886,0.00109356],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001338155,"threshold_uncertainty_score":0.004476547,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03114607688938798,"score_gpt":0.2974900382430001,"score_spread":0.2663439613536122,"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."}}