Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.T116A
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PSEN1

NM_000021.4:p.T116A

Associated Papers

Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening.

Nicolas G et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2024

Hydrophilic loop 1 of Presenilin-1 and the APP GxxxG transmembrane motif regulate γ-secretase function in generating Alzheimer-causing Aβ peptides.

Liu L et al.

The Journal of Biological Chemistry, 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."