Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.I422fs
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GRN

NM_002087.4:p.I422fs

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

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
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