Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.F283L
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PSEN1

NM_000021.4:p.F283L

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

Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.

Karch CM et al.

Alzheimer's Research & Therapy, 2018

Characterizing familial corticobasal syndrome due to Alzheimer's disease pathology and PSEN1 mutations.

Lam B et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2017

Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.

Ryan NS et al.

The Lancet. Neurology, 2016

Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.

Ringman JM et al.

Current Neurology and Neuroscience Reports, 2014

Genetic influences on atrophy patterns in familial Alzheimer's disease: a comparison of APP and PSEN1 mutations.

Scahill RI et al.

Journal of Alzheimer's Disease : Jad, 2013

Hyperkinesia and early-onset dementia in a female with co-occurring PSEN1 and HTT mutations: A case report.

Lee S et al.

Journal of Alzheimer's Disease Reports, 0

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