Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH3
Variant:p.R169S
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NOTCH3

NM_000435.3:p.R169S

Associated Papers

A pathogenic PSEN2 p.His169Asn mutation associated with early-onset Alzheimer's disease.

Giau VV et al.

Clinical Interventions in Aging, 2018

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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."