{"id":"W2805938498","doi":"10.1016/j.ajhg.2018.04.006","title":"TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism","year":2018,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Magnesium in Health and Disease","field":"Nursing","cited_by":70,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; University of Toronto; SickKids Foundation; Mount Sinai Hospital","funders":"National Institute for Basic Biology; Ministry of Education, Culture, Sports, Science and Technology","keywords":"Frameshift mutation; Compound heterozygosity; Genetics; TRPV6; Biology; Mutation; Endocrinology; Internal medicine; Medicine; Gene; Transient receptor potential channel; Receptor","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":[0.0003268927,0.0007138471,0.0004170573,0.0004736728,0.0003960668,0.000537636,0.0007870969,0.002034884,0.005249312],"category_scores_gemma":[0.00252312,0.0002785133,0.0007866289,0.0003597901,0.0008301463,0.0003661167,0.0005284229,0.0009548455,0.00055386],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003300073,"about_ca_system_score_gemma":0.0002241503,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001181527,"about_ca_topic_score_gemma":0.0006643672,"domain_scores_codex":[0.9993963,0.0001539624,0.00009454975,0.0001202058,0.0001481222,0.00008682531],"domain_scores_gemma":[0.9990907,0.0004304875,0.000250017,0.00007913185,0.00005515381,0.0000945541],"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":[0.009550442,0.0005482559,0.08460312,0.0008695271,0.001053468,0.1215674,0.002415,0.002172101,0.7043644,0.0152275,0.005639629,0.0519891],"study_design_scores_gemma":[0.002049494,0.003167993,0.267355,0.0005759598,0.00245294,0.4740878,0.00155599,0.009630534,0.186586,0.01936251,0.03293961,0.0002361046],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9896035,0.001727527,0.00287676,0.001287538,0.0002245407,0.00002674163,0.0007573816,0.0001830604,0.003312985],"genre_scores_gemma":[0.9975554,0.0003275774,0.000729084,0.0001988685,0.00005886312,0.00000889235,0.0001545988,0.00005383419,0.000912957],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005249312,"threshold_uncertainty_score":0.01756072,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02390097525811533,"score_gpt":0.2999218044142878,"score_spread":0.2760208291561724,"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."}}