Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.G419_E421insFs
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GRN

NM_002087.4:p.G419_E421insFs

Associated Papers

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

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

Rates of Brain Atrophy Across Disease Stages in Familial Frontotemporal Dementia Associated With MAPT, GRN, and C9orf72 Pathogenic Variants.

Staffaroni AM et al.

Jama Network Open, 2020

33112398 (PubMed )
Supplement: jamanetwopen-e2022847-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

Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases.

Ramos EM et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2020

Genetic screen in a large series of patients with primary progressive aphasia.

Ramos EM et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2019

Progranulin mutations as risk factors for Alzheimer disease.

Perry DC et al.

Jama Neurology, 2013

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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."