Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.H471_A472Splc
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GRN

NM_002087.4:p.H471_A472Splc

Associated Papers

Pathogenic or Likely Pathogenic GRN Variants Are Found in 0.1% of Parkinson's Disease Patients.

Ganoza CA et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

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

Patient-derived frontotemporal lobar degeneration brain extracts induce formation and spreading of TDP-43 pathology in vivo.

Porta S et al.

Nature Communications, 2018

30310141 (PubMed )
Supplement: 41467_2018_6548_MOESM1_ESM.pdf

Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.

Cruchaga C et al.

Plos One, 2012

Genetic and clinical features of progranulin-associated frontotemporal lobar degeneration.

Chen-Plotkin AS et al.

Archives of Neurology, 2011

The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration.

Yu CE et al.

Archives of Neurology, 2010

Brain progranulin expression in GRN-associated frontotemporal lobar degeneration.

Chen-Plotkin AS et al.

Acta Neuropathologica, 2010

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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."