Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.C31fs
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GRN

NM_002087.4:p.C31fs

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

Targeting Granulin Haploinsufficiency in Frontotemporal Dementia: From Genetic Mechanisms to Therapeutics.

Bagyinszky E et al.

International Journal of Molecular Sciences, 2025

Clinical impact of whole-genome sequencing in patients with early-onset dementia.

Huq AJ et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 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

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

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17.

Baker M et al.

Nature, 2006

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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."