Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.Q519fs
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FUS

NM_004960.4:p.Q519fs

Associated Papers

Amyotrophic lateral sclerosis caused by FUS mutations: advances with broad implications.

Moens TG et al.

The Lancet. Neurology, 2025

FUS gene mutation in amyotrophic lateral sclerosis: a new case report and systematic review.

Xiao X et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2024

FUS-P525L Juvenile Amyotrophic Lateral Sclerosis and Intellectual Disability: Evidence for Association and Oligogenic Inheritance.

Goldstein O et al.

Neurology. Genetics, 2022

The Occurrence of FUS Mutations in Pediatric Amyotrophic Lateral Sclerosis: A Case Report and Review of the Literature.

Picher-Martel V et al.

Journal of Child Neurology, 2020

The role of de novo mutations in adult-onset neurodegenerative disorders.

Nicolas G et al.

Acta Neuropathologica, 2019

30478624 (PubMed )
Supplement: 401_2018_1939_MOESM1_ESM.xlsx › Supp_Table_2_FTLD_spectrum

The investigation of genetic and clinical features in Chinese patients with juvenile amyotrophic lateral sclerosis.

Liu ZJ et al.

Clinical Genetics, 2017

De novo FUS gene mutations are associated with juvenile-onset sporadic amyotrophic lateral sclerosis in China.

Zou ZY et al.

Neurobiology of Aging, 2013

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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."