Varaico: Literature-Extracted Genetic Variants

Gene:GRN
Variant:p.D128D
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GRN

NM_002087.4:p.D128D

Associated Papers

Mutations in PGRN gene associated with the risk of psoriasis in Pakistan: a case control study.

Saleem S et al.

Bmc Medical Genomics, 2023

TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders.

Berdyński M et al.

Journal of Alzheimer's Disease : Jad, 2022

36031890 (PubMed )
Supplement: sj-xlsx-2-alz-10.3233_jad-220210.xlsx › Robocza

Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.

Bartoletti-Stella A et al.

Frontiers in Aging Neuroscience, 2022

36133075 (PubMed )
Supplement: Table_1.XLSX › AD_030

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM3_ESM.xls › Sheet1

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.

Kenna KP et al.

Journal of Medical Genetics, 2013

23881933 (PubMed )
Supplement: jmedgenet-2013-101795-s1.pdf

Screening for progranulin mutations by serum protein dosage in common neurodegenerative disorders.

Rodríguez-Rodríguez E et al.

Parkinsonism & Related Disorders, 2013

Progranulin genetic screening in frontotemporal lobar degeneration patients from central Italy.

Bagnoli S et al.

Cellular and Molecular Neurobiology, 2012

Screening for MAPT and PGRN mutations in Korean patients with PSP/CBS/FTD.

Kim HJ et al.

Parkinsonism & Related Disorders, 2010

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

Guerreiro RJ et al.

Human Mutation, 2010

Low prevalence of progranulin mutations in Finnish patients with frontotemporal lobar degeneration.

Krüger J et al.

European Journal of Neurology, 2009

Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia.

Rademakers R et al.

Human Molecular Genetics, 2008

18723524 (PubMed )
Supplement: ddn257_1.pdf

Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia.

van der Zee J et al.

Human Mutation, 2007

Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration.

Gass J et al.

Human Molecular Genetics, 2006

PGRN mutations in northern Italy.

Borroni B et al.

Alzheimer Disease and Associated Disorders, 0

Higher than expected progranulin mutation rate in a case series of Italian FTLD patients.

Tremolizzo L et al.

Alzheimer Disease and Associated Disorders, 0

Novel progranulin mutation detected in 2 patients with FTLD.

Skoglund L et al.

Alzheimer Disease and Associated Disorders, 0

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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."