Varaico: Literature-Extracted Genetic Variants

Gene:APP
Variant:p.L28P
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APP

NM_000484.4:p.L28P

Associated Papers

Molecular basis for increased risk for late-onset Alzheimer disease due to the naturally occurring L28P mutation in apolipoprotein E4.

Argyri L et al.

The Journal of Biological Chemistry, 2014

APECED mutations in the autoimmune regulator (AIRE) gene.

Heino M et al.

Human Mutation, 2001

Characterization of transgenic mice expressing apolipoprotein E4(C112R) and apolipoprotein E4(L28P; C112R).

Huber G et al.

Neuroscience, 2000

Mutation analyses of North American APS-1 patients.

Heino M et al.

Human Mutation, 1999

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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."