Varaico: Literature-Extracted Genetic Variants

Gene:ENPEP
Variant:p.W413*
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ENPEP

NM_001977.4:p.W413*

Associated Papers

Myeloid lineage cells evince distinct steady-state level of certain gene groups in dependence on hereditary angioedema severity.

Ballonová L et al.

Frontiers in Genetics, 2023

37470035 (PubMed )
Supplement: Table1.XLSX › Table_S3_Deleterious_gene_varia

Metabolites downstream of predicted loss-of-function variants inform relationship to disease.

Li M et al.

Molecular Genetics and Metabolism, 2019

Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease.

Emdin CA et al.

Nature Communications, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."