Varaico: Literature-Extracted Genetic Variants

Gene:FIG4
Variant:p.R388G
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FIG4

NM_014845.6:p.R388G

Associated Papers

T2 olivary nuclei hyperintensities: A characteristic neuroimaging finding in FIG4-related leukoencephalopathy.

Sait H et al.

American Journal of Medical Genetics. Part A, 2023

Prospects for gene replacement therapies in amyotrophic lateral sclerosis.

Giovannelli I et al.

Nature Reviews. Neurology, 2023

Novel Variants in the FIG4 Gene Associated With Chinese Sporadic Amyotrophic Lateral Sclerosis With Slow Progression.

Liu CY et al.

Journal of Clinical Neurology (seoul, Korea), 2022

FIG4-Associated Yunis-Varon Syndrome: Identification of a Novel Missense Variant.

Umair M et al.

Molecular Syndromology, 2021

Genetics of primary lateral sclerosis.

Silani V et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2020

FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study.

Osmanovic A et al.

European Journal of Human Genetics : Ejhg, 2017

The FIG4 gene does not play a major role in causing ALS in Italian patients.

Verdiani S et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2013

Dysfunction of constitutive and inducible ubiquitin-proteasome system in amyotrophic lateral sclerosis: implication for protein aggregation and immune response.

Bendotti C et al.

Progress in Neurobiology, 2012

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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."