Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.Y115F
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PSEN1

NM_000021.4:p.Y115F

Associated Papers

Apo and Aβ46-bound γ-secretase structures provide insights into amyloid-β processing by the APH-1B isoform.

Odorčić I et al.

Nature Communications, 2024

Clinical Phenotype and Mutation Spectrum of Alzheimer's Disease with Causative Genetic Mutation in a Chinese Cohort.

Mao C et al.

Current Alzheimer Research, 2021

34102969 (PubMed )
Supplement: CAR-18-265_SD1.pdf

Nicastrin is dispensable for gamma-secretase protease activity in the presence of specific presenilin mutations.

Futai E et al.

The Journal of Biological Chemistry, 2009

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