Varaico: Literature-Extracted Genetic Variants

Gene:LIPA
Variant:p.P384S
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LIPA

NM_000235.4:p.P384S

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

pTuneos: prioritizing tumor neoantigens from next-generation sequencing data.

Zhou C et al.

Genome Medicine, 2019

31666118 (PubMed )
Supplement: 13073_2019_679_MOESM11_ESM.xlsx › Table_S10.B
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