{"id":"W2884378660","doi":"10.1371/journal.pgen.1007671","title":"De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay","year":2018,"lang":"en","type":"article","venue":"PLoS Genetics","topic":"Cellular transport and secretion","field":"Biochemistry, Genetics and Molecular Biology","cited_by":34,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster Children's Hospital","funders":"State of Alabama; National Institute of Environmental Health Sciences; Ministerstvo Zdravotnictví Ceské Republiky; National Human Genome Research Institute; Genomic Health","keywords":"Biology; GTPase; Genetics; Small GTPase; Effector; GTP'; Proband; Mutation; Allele; GTPase-activating protein; Ras superfamily; Gene; G protein; Signal transduction; Cell biology; Biochemistry","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001503683,0.000107285,0.00009530789,0.00002898511,0.00007381469,0.00001452108,0.0001216129,0.00010676,0.00001519823],"category_scores_gemma":[0.00006786248,0.00009266487,0.00003585034,0.0001076671,0.000299903,0.000002280871,0.00003846984,0.00007402893,0.000002303989],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002299214,"about_ca_system_score_gemma":0.00006500279,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001520562,"about_ca_topic_score_gemma":0.0009406667,"domain_scores_codex":[0.9992582,0.00006340717,0.0002106547,0.0002088563,0.00008783088,0.0001710202],"domain_scores_gemma":[0.9996555,0.00003876969,0.00004392304,0.0001678746,0.00005181621,0.00004207057],"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":[0.0001055105,0.000194752,0.1986085,0.00003894285,0.00005116926,0.00001307115,0.005111261,0.0000141449,0.7951123,0.00001683879,0.00003830826,0.0006952853],"study_design_scores_gemma":[0.00136816,0.0007249251,0.04004151,0.00006153384,0.0001576919,0.0002774558,0.003063476,0.001859717,0.9456166,0.0001607327,0.006208571,0.0004596577],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9950945,0.000205574,0.004262042,0.00005050964,0.00003463434,0.0002048068,0.00001197422,0.000004017774,0.0001318871],"genre_scores_gemma":[0.9980713,0.0001432131,0.001198964,0.00007617181,0.00006892048,0.00001410059,0.0003698447,0.00001227647,0.00004527345],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.158567,"threshold_uncertainty_score":0.3778764,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03274316361181898,"score_gpt":0.2409267845337835,"score_spread":0.2081836209219645,"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."}}