Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.E393_A394Splc
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GRN

NM_002087.4:p.E393_A394Splc

Associated Papers

Disparate and shared transcriptomic signatures associated with cortical atrophy in genetic behavioral variant frontotemporal degeneration.

Shen T et al.

Molecular Neurodegeneration, 2025

39920674 (PubMed )
Supplement: 13024_2025_806_MOESM1_ESM.pdf

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

Cognitive decline and reduced survival in C9orf72 expansion frontotemporal degeneration and amyotrophic lateral sclerosis.

Irwin DJ et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2013

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

Chen-Plotkin AS et al.

Archives of Neurology, 2011

Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.

Van Deerlin VM et al.

Nature Genetics, 2010

20154673 (PubMed )
Supplement: NIHMS172758-supplement-1.pdf

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."