Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.V252M
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PSEN1

NM_000021.4:p.V252M

Associated Papers

Specific mutations in presenilin 1 cause conformational changes in γ-secretase to modulate amyloid β trimming.

Imai S et al.

Journal of Biochemistry, 2019

Nicastrin is dispensable for gamma-secretase protease activity in the presence of specific presenilin mutations.

Futai E et al.

The Journal of Biological Chemistry, 2009

Identification and characterization of the novel FAD-binding lobe G75S mutation in cytochrome b(5) reductase: an aid to determine recessive congenital methemoglobinemia status in an infant.

Percy MJ et al.

Blood Cells, Molecules & Diseases, 0

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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."