Varaico: Literature-Extracted Genetic Variants

Gene:PSEN2
Variant:p.E126D
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PSEN2

NM_000447.3:p.E126D

Associated Papers

Mutagenesis mapping of the presenilin 1 calcium leak conductance pore.

Nelson O et al.

The Journal of Biological Chemistry, 2011

Functional importance of complex formation between the retinoblastoma tumor suppressor family and adenovirus E1A proteins as determined by mutational analysis of E1A conserved region 2.

Corbeil HB et al.

Journal of Virology, 1994

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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."