Varaico: Literature-Extracted Genetic Variants

Gene:ADAM17
Variant:p.R215I
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ADAM17

NM_003183.6:p.R215I

Associated Papers

The Role of Oxygen Homeostasis and the HIF-1 Factor in the Development of Neurodegeneration.

Mitroshina EV et al.

International Journal of Molecular Sciences, 2024

Challenge accepted: uncovering the role of rare genetic variants in Alzheimer's disease.

Khani M et al.

Molecular Neurodegeneration, 2022

A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease.

Hartl D et al.

Molecular Psychiatry, 2020

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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."