{"id":"W2139706576","doi":"10.1093/hmg/9.1.109","title":"Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy","year":2000,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Nuclear Structure and Function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":657,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"LMNA; Biology; Lamin; Genetics; Missense mutation; Progeria; Mutation; Gene","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004090976467654862,"score_gpt":0.2053384829984289,"score_spread":0.201247506530774,"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."}}