Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.G117Splc
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GRN

NM_002087.4:p.G117Splc

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

Characterization of novel progranulin gene variants in Italian patients with neurodegenerative diseases.

Bartoletti-Stella A et al.

Neurobiology of Aging, 2021

High-Throughput Genetic Testing in ALS: The Challenging Path of Variant Classification Considering the ACMG Guidelines.

Lattante S et al.

Genes, 2020

32987860 (PubMed )
Supplement: genes-11-01123-s001.zip › Supplementary_Table_I.xlsx › Variant_list

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

Frequency of frontotemporal dementia gene variants in C9ORF72, MAPT, and GRN in academic versus commercial laboratory cohorts.

Steele NZ et al.

Advances in Genomics and Genetics, 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."