Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.N236_A237Splc
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GRN

NM_002087.4:p.N236_A237Splc

Associated Papers

Clinical and neuroanatomical characterization of the semantic behavioral variant of frontotemporal dementia in a multicenter Italian cohort.

Ghirelli A et al.

Journal of Neurology, 2024

38597943 (PubMed )
Supplement: 415_2024_12338_MOESM1_ESM.docx

A neurodegenerative disease landscape of rare mutations in Colombia due to founder effects.

Acosta-Uribe J et al.

Genome Medicine, 2022

35260199 (PubMed )
Supplement: 13073_2022_1035_MOESM7_ESM.pdf

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

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

Bartoletti-Stella A et al.

Neurobiology of Aging, 2021

Age at symptom onset and death and disease duration in genetic frontotemporal dementia: an international retrospective cohort study.

Moore KM et al.

The Lancet. Neurology, 2020

31810826 (PubMed )
Supplement: NIHMS1067362-supplement-Supplement.pdf

Genotype-phenotype links in frontotemporal lobar degeneration.

Van Mossevelde S et al.

Nature Reviews. Neurology, 2018

Clinical and genetic analyses of familial and sporadic frontotemporal dementia patients in Southern Italy.

Capozzo R et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2017

A Novel Splice-Acceptor Site Mutation in GRN (c.709-2 A>T) Causes Frontotemporal Dementia Spectrum in a Large Family from Southern Italy.

Sassi C et al.

Journal of Alzheimer's Disease : Jad, 2016

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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."