Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.P512delFs
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GRN

NM_002087.4:p.P512delFs

Associated Papers

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

Trajectory of lobar atrophy in asymptomatic and symptomatic GRN mutation carriers: a longitudinal MRI study.

Chen Q et al.

Neurobiology of Aging, 2020

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

Novel GRN mutation presenting as an aphasic dementia and evolving into corticobasal syndrome.

Botha H et al.

Neurology. Genetics, 2017

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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."