Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.R514S
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FUS

NM_004960.4:p.R514S

Associated Papers

Single-cell RNA-sequencing reveals early mitochondrial dysfunction unique to motor neurons shared across FUS- and TARDBP-ALS.

Schweingruber C et al.

Nature Communications, 2025

40389397 (PubMed )
Supplement: 41467_2025_59679_MOESM3_ESM.xlsx › FUS_Clinical_Data

Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy.

Suzuki N et al.

Journal of Human Genetics, 2023

Fused in Sarcoma: Properties, Self-Assembly and Correlation with Neurodegenerative Diseases.

Chen C et al.

Molecules (basel, Switzerland), 2019

Genotype-phenotype relationships in familial amyotrophic lateral sclerosis with FUS/TLS mutations in Japan.

Akiyama T et al.

Muscle & Nerve, 2016

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

Kenna KP et al.

Journal of Medical Genetics, 2013

Extensive genetics of ALS: a population-based study in Italy.

Chiò A et al.

Neurology, 2012

A novel double mutation in FUS gene causing sporadic ALS.

Robertson J et al.

Neurobiology of Aging, 2011

Two Italian kindreds with familial amyotrophic lateral sclerosis due to FUS mutation.

Chiò A et al.

Neurobiology of Aging, 2009

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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."