Title : A novel PSEN2 p.Ser175Phe variant in a family with Alzheimer's disease.

Pub. Date : 2021 Jun

PMID : 33855622






2 Functional Relationships(s)
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Compound Name
Protein Name
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1 A novel PSEN2 p.Ser175Phe variant in a family with Alzheimer"s disease. ser175phe presenilin 2 Homo sapiens
2 In this study, we describe a novel heterozygous PSEN2 (c.524C>T, p.Ser175Phe) alteration identified in a 58-year-old Turkish patient from a family with multiple dementia cases. ser175phe presenilin 2 Homo sapiens