Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.A246E
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GFAP

NM_002055.5:p.A246E

Associated Papers

PgxSAVy: A tool for comprehensive evaluation of variant peptide quality in proteogenomics - catching the (un)usual suspects.

Raj A et al.

Computational and Structural Biotechnology Journal, 2024

38292474 (PubMed )
Supplement: mmc3.xlsx › AD_DiseaseAnnotation

Familial Alzheimer's Disease Neurons Bearing Mutations in PSEN1 Display Increased Calcium Responses to AMPA as an Early Calcium Dysregulation Phenotype.

Targa Dias Anastacio H et al.

Life (basel, Switzerland), 2024

Gene replacement-Alzheimer's disease (GR-AD): Modeling the genetics of human dementias in mice.

Benzow K et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024

Presenilin transgenic mice as models of Alzheimer's disease.

Elder GA et al.

Brain Structure & Function, 2010

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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."