Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.C92*
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GRN

NM_002087.4:p.C92*

Associated Papers

C9orf72 expansions are the most common cause of genetic frontotemporal dementia in a Southeast Asian cohort.

Tan YJ et al.

Annals of Clinical and Translational Neurology, 2023

Autosomal Dominant Frontotemporal Lobar Degeneration in a Filipino Family with Progranulin Mutation.

Dominguez J et al.

Dementia and Geriatric Cognitive Disorders, 2020

Targeted exome sequencing reveals homozygous TREM2 R47C mutation presenting with behavioral variant frontotemporal dementia without bone involvement.

Ng ASL et al.

Neurobiology of Aging, 2018

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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."