Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.P242H
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PSEN1

NM_000021.4:p.P242H

Associated Papers

The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.

Liu H et al.

Brain : a Journal of Neurology, 2025

39903689 (PubMed )
Supplement: awaf038_supplementary_data.zip › 2-Supplemental_Table1_AR_20250121_JLliF.pdf

Evaluating pathogenicity of variants of unknown significance in APP, PSEN1, and PSEN2.

Marsh JA et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2025

Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.

Keogh MJ et al.

Genome Research, 2017

28003435 (PubMed )
Supplement: supp_gr.210609.116_Supplemental_Clinical_data.xlsx › Pathogenic_heterozygous
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