Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.A266P
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GRN

NM_002087.4:p.A266P

Associated Papers

A systematic review of progranulin concentrations in biofluids in over 7,000 people-assessing the pathogenicity of GRN mutations and other influencing factors.

Swift IJ et al.

Alzheimer's Research & Therapy, 2024

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

Characterization of novel progranulin gene variants in Italian patients with neurodegenerative diseases.

Bartoletti-Stella A et al.

Neurobiology of Aging, 2021

Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing.

Bartoletti-Stella A et al.

Neurobiology of Aging, 2018

Precision medicine of frontotemporal dementia: from genotype to phenotype.

Che XQ et al.

Frontiers in Bioscience (landmark Edition), 2018

Novel GRN Mutations in Patients with Corticobasal Syndrome.

Taghdiri F et al.

Scientific Reports, 2016

Missense mutations in progranulin gene associated with frontotemporal lobar degeneration: study of pathogenetic features.

Karch CM et al.

Neurobiology of Aging, 2016

A network of RNA and protein interactions in Fronto Temporal Dementia.

Fontana F et al.

Frontiers in Molecular Neuroscience, 2015

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

Bernardi L et al.

Neurobiology of Aging, 2012

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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."