Associated Papers
Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency.
Del Angel G et al.
Human Mutation, 2019
31180157 (PubMed )
Supplement: HUMU-40-2007-s003.xlsx › Supplementary_Table_3
Homozygous p.Ser267Phe in SLC10A1 is associated with a new type of hypercholanemia and implications for personalized medicine.
Liu R et al.
Scientific Reports, 2017
28835676 (PubMed )
Supplement: 41598_2017_7012_MOESM1_ESM.doc
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