Varaico: Literature-Extracted Genetic Variants

Gene:APOA5
Variant:p.Q128Fs
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APOA5

NM_001371904.1:p.Q128Fs

Associated Papers

Rare variant genetic landscape of familial chylomicronemia syndrome (FCS) in the United Kingdom.

Bashir B et al.

Genetics in Medicine Open, 2025

40919303 (PubMed )
Supplement: mmc1.pdf

Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype-phenotype relationship for variants reported to date.

Zhang G et al.

Lipids in Health and Disease, 2023

37568214 (PubMed )
Supplement: 12944_2023_1898_MOESM1_ESM.docx
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