Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.K395R
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PSEN1

NM_000021.4:p.K395R

Associated Papers

The role of genetics in neurodegenerative dementia: a large cohort study in South China.

Jiao B et al.

Npj Genomic Medicine, 2021

34389718 (PubMed )
Supplement: 41525_2021_235_MOESM1_ESM.docx

Pathogenic PSEN1 Glu184Gly Mutation in a Family from Thailand with Probable Autosomal Dominant Early Onset Alzheimer's Disease.

Senanarong V et al.

Diagnostics (basel, Switzerland), 2020

32121568 (PubMed )
Supplement: diagnostics-10-00135-s001.pdf
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