Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.T382fs
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GRN

NM_002087.4:p.T382fs

Associated Papers

The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probands.

Cogan G et al.

Brain : a Journal of Neurology, 2025

41240362 (PubMed )
Supplement: awaf423_supplementary_data.zip › brain-2025-01866-File011.xlsx › Supplementary_table_2

Patients with sporadic FTLD exhibit similar increases in lysosomal proteins and storage material as patients with FTD due to GRN mutations.

Davis SE et al.

Acta Neuropathologica Communications, 2023

GRN Mutations Are Associated with Lewy Body Dementia.

Reho P et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

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

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.

Pottier C et al.

Acta Neuropathologica, 2015

Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage.

Smith KR et al.

American Journal of Human Genetics, 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."