p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease

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p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease

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http://www.wikidata.org/entity/Q58769868

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im September 2018 veröffentlichter wissenschaftlicher Artikel

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scientific article published on 02 September 2018

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wetenschappelijk artikel

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наукова стаття, опублікована у вересні 2018

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p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease

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p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease

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p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease

@en

p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease

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p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease

@en

p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease

@nl

P1476

PSEN1 p.Thr116Ile Variant in Two Korean Families with Young Onset Alzheimer's Disease

@en

P2093

Jee Hyang Jeong

http://www.w3.org/2001/XMLSchema#string

SangYun Kim

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Seong Soo A An

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Seong-Beom Koh

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P2860

ExPASy: The proteomics server for in-depth protein knowledge and analysis

A method and server for predicting damaging missense mutations

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

SIFT: Predicting amino acid changes that affect protein function

Template-based protein structure modeling using the RaptorX web server.

Clinical genetics of Alzheimer's disease

Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum

Mutation analysis of the presenilin 1 N-terminal domain reveals a broad spectrum of gamma-secretase activity toward amyloid precursor protein and other substrates.

Structure, mechanism and inhibition of gamma-secretase and presenilin-like proteases

A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease.

P304

2604

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P31

scholarly article

P356

10.3390/IJMS19092604

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P407

English

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Eva Bagyinszky

Vo Van Giau

Hye Mi Lee

P577

2018-09-02T00:00:00Z

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P698

30200536

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P921

molecular biology

catalysis

P932

6164060

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