Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.R433Q
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GRN

NM_002087.4:p.R433Q

Associated Papers

Biobank-scale genetic characterization of Alzheimer's disease and related dementias across diverse ancestries.

Khani M et al.

Nature Communications, 2025

40813364 (PubMed )
Supplement: 41467_2025_62108_MOESM3_ESM.xlsx › Supplementary_Data_1

Biobank-scale characterization of Alzheimer's disease and related dementias identifies potential disease-causing variants, risk factors, and genetic modifiers across diverse ancestries.

Khani M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39606324 (PubMed )
Supplement: media-14.xlsx › Supplementary_Table_1

Association of Acquired and Heritable Factors With Intergenerational Differences in Age at Symptomatic Onset of Alzheimer Disease Between Offspring and Parents With Dementia.

Day GS et al.

Jama Network Open, 2019

Pleiotropic Effects of Variants in Dementia Genes in Parkinson Disease.

Ibanez L et al.

Frontiers in Neuroscience, 2018

29692703 (PubMed )
Supplement: Table3.DOCX

Mechanisms of granulin deficiency: lessons from cellular and animal models.

Kleinberger G et al.

Molecular Neurobiology, 2013

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

A thorough assessment of benign genetic variability in GRN and MAPT.

Guerreiro RJ et al.

Human Mutation, 2010

Molecular characterization of novel progranulin (GRN) mutations in frontotemporal dementia.

Mukherjee O et al.

Human Mutation, 2008

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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."