Varaico: Literature-Extracted Genetic Variants

Gene:ALPI
Variant:p.E200K
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ALPI

NM_001631.5:p.E200K

Associated Papers

A Functional Variant Rs492554 Associated With Congenital Heart Defects Modulates SESN2 Expression Through POU2F1.

Yang W et al.

Frontiers in Cell and Developmental Biology, 2021

34249922 (PubMed )
Supplement: Table_1.xls › MQ1-2-3

Cyclin-dependent kinase 5 phosphorylation of familial prion protein mutants exacerbates conversion into amyloid structure.

Rouget R et al.

The Journal of Biological Chemistry, 2015

Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson disease.

Bogaerts V et al.

Human Mutation, 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."