Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.T382insFs
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GRN

NM_002087.4:p.T382insFs

Associated Papers

Progranulin Gene Mutations in Chinese Patients with Frontotemporal Dementia: A Case Report and Literature Review.

Chu M et al.

Journal of Alzheimer's Disease : Jad, 2023

36970912 (PubMed )
Supplement: jad-93-jad230052-s001.pdf

Calabria as a Genetic Isolate: A Model for the Study of Neurodegenerative Diseases.

Bruno F et al.

Biomedicines, 2022

Exploring dementia and neuronal ceroid lipofuscinosis genes in 100 FTD-like patients from 6 towns and rural villages on the Adriatic Sea cost of Apulia.

Sassi C et al.

Scientific Reports, 2021

33737586 (PubMed )
Supplement: 41598_2021_85494_MOESM1_ESM.docx

Progranulin as a therapeutic target for dementia.

Galimberti D et al.

Expert Opinion on Therapeutic Targets, 2018

Role of Genetics and Epigenetics in the Pathogenesis of Alzheimer's Disease and Frontotemporal Dementia.

Fenoglio C et al.

Journal of Alzheimer's Disease : Jad, 2018

Epidemiology and genetics of frontotemporal dementia: a door-to-door survey in southern Italy.

Bernardi L et al.

Neurobiology of Aging, 2012

Granulin mutations associated with frontotemporal lobar degeneration and related disorders: an update.

Gijselinck I et al.

Human Mutation, 2008

Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical series.

Borroni B et al.

Neurogenetics, 2008

Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation.

Bruni AC et al.

Neurology, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."