Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.P439_R440delFs
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GRN

NM_002087.4:p.P439_R440delFs

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

GRN mutation spectrum and genotype-phenotype correlation in Chinese dementia patients: data from PUMCH dementia cohort.

Liu C et al.

Journal of Medical Genetics, 2024

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

Patient-derived frontotemporal lobar degeneration brain extracts induce formation and spreading of TDP-43 pathology in vivo.

Porta S et al.

Nature Communications, 2018

30310141 (PubMed )
Supplement: 41467_2018_6548_MOESM1_ESM.pdf

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

Chen-Plotkin AS et al.

Archives of Neurology, 2011

The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration.

Yu CE et al.

Archives of Neurology, 2010

Brain progranulin expression in GRN-associated frontotemporal lobar degeneration.

Chen-Plotkin AS et al.

Acta Neuropathologica, 2010

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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."