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Title : Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency - Del Angel_2019_Hum.Mutat_40_2007 |
Author(s) : Del Angel G , Hutchinson AT , Jain NK , Forbes CD , Reynders J |
Ref : Hum Mutat , 40 :2007 , 2019 |
Abstract : Del Angel_2019_Hum.Mutat_40_2007 |
ESTHER : Del Angel_2019_Hum.Mutat_40_2007 |
PubMedSearch : Del Angel_2019_Hum.Mutat_40_2007 |
PubMedID: 31180157 |
Gene_locus related to this paper: human-LIPA |