Varaico: Literature-Extracted Genetic Variants

Gene:C9orf72
Variant:p.Q51L
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C9orf72

NM_018325.5:p.Q51L

Associated Papers

Understanding Tau pathology: Insights from animal models.

Zhang H et al.

Zoological Research, 2025

Single-cell transcriptomic and neuropathologic analysis reveals dysregulation of the integrated stress response in progressive supranuclear palsy.

Whitney K et al.

Biorxiv : the Preprint Server for Biology, 2023

Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases.

Perrone F et al.

Genome Medicine, 2021

Novel tau filament fold in corticobasal degeneration.

Zhang W et al.

Nature, 2020

Language impairment in primary progressive aphasia and other neurodegenerative diseases.

Rahul DR et al.

Journal of Genetics, 2019

Alzheimer's Disease and Frontotemporal Dementia: The Current State of Genetics and Genetic Testing Since the Advent of Next-Generation Sequencing.

Goldman JS et al.

Molecular Diagnosis & Therapy, 2018

Precision medicine of frontotemporal dementia: from genotype to phenotype.

Che XQ et al.

Frontiers in Bioscience (landmark Edition), 2018

Defining the genetic connection linking amyotrophic lateral sclerosis (ALS) with frontotemporal dementia (FTD).

Lattante S et al.

Trends in Genetics : Tig, 2015

Analysis of C9orf72 repeat expansions in a large series of clinically and pathologically diagnosed cases with atypical parkinsonism.

Schottlaender LV et al.

Neurobiology of Aging, 2015

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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."