Varaico: Literature-Extracted Genetic Variants

Gene:RHBDL2
Variant:p.L286V
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RHBDL2

NM_017821.5:p.L286V

Associated Papers

Alzheimer presenilin-1 mutations dramatically reduce trimming of long amyloid β-peptides (Aβ) by γ-secretase to increase 42-to-40-residue Aβ.

Fernandez MA et al.

The Journal of Biological Chemistry, 2014

Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy.

Kwok JB et al.

The Journal of Biological Chemistry, 2003

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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."