Varaico: Literature-Extracted Genetic Variants

Gene:EGF
Variant:p.H82L
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EGF

NM_001963.6:p.H82L

Associated Papers

Stepwise processing analyses of the single-turnover PCSK9 protease reveal its substrate sequence specificity and link clinical genotype to lipid phenotype.

Chorba JS et al.

The Journal of Biological Chemistry, 2018

Characterization of novel mutations in the catalytic domain of the PCSK9 gene.

Cameron J et al.

Journal of Internal Medicine, 2008

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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."