Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.G333delFs
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GRN

NM_002087.4:p.G333delFs

Associated Papers

ANXA11 Mutations in the FTD Spectrum: A Novel Finding in a Patient With Semantic Variant Primary Progressive Aphasia.

Meng Y et al.

European Journal of Neurology, 2025

40345169 (PubMed )
Supplement: ENE-32-e70187-s001.docx

Genotype-phenotype correlation in the spectrum of frontotemporal dementia-parkinsonian syndromes and advanced diagnostic approaches.

Zecca C et al.

Critical Reviews in Clinical Laboratory Sciences, 2023

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

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

Analyses of the MAPT, PGRN, and C9orf72 mutations in Japanese patients with FTLD, PSP, and CBS.

Ogaki K et al.

Parkinsonism & Related Disorders, 2013

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration.

Chen-Plotkin AS et al.

Archives of Neurology, 2011

Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members.

Finch N et al.

Brain : a Journal of Neurology, 2009

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

Gijselinck I et al.

Human Mutation, 2008

[Frontotemporal dementia (FTD) and genetic mutations including progranulin gene].

Arai T et al.

Rinsho Shinkeigaku = Clinical Neurology, 2008

The molecular genetics and neuropathology of frontotemporal lobar degeneration: recent developments.

Mackenzie IR et al.

Neurogenetics, 2007

The genetics of frontotemporal lobar degeneration.

Rademakers R et al.

Current Neurology and Neuroscience Reports, 2007

Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.

Gass J et al.

Human Molecular Genetics, 2006

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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."