Varaico: Literature-Extracted Genetic Variants

Gene:EGF
Variant:p.V71delFs
Back to variants list

EGF

NM_001963.6:p.V71delFs

Associated Papers

Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing.

Humphries SE et al.

Journal of Molecular Medicine (berlin, Germany), 2006

Mutation analysis in 36 unrelated Spanish subjects with familial hypercholesterolemia: identification of 3 novel mutations in the LDL receptor gene.

Mozas P et al.

Human Mutation, 2000

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."