Varaico: Literature-Extracted Genetic Variants

Gene:FIG4
Variant:p.Q403*
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FIG4

NM_014845.6:p.Q403*

Associated Papers

A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.

Arreola-Aldape CA et al.

Frontiers in Neuroscience, 2025

40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants

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

Case report: A variant of the FIG4 gene with rapidly progressive amyotrophic lateral sclerosis.

Yilihamu M et al.

Frontiers in Neurology, 2022

Case report and literature review: Novel compound heterozygous FIG4 variants causing both of peripheral and central nervous system defects.

Yu Y et al.

Frontiers in Pediatrics, 2022

New genetic causes for complex hereditary spastic paraplegia.

Souza PVS et al.

Journal of the Neurological Sciences, 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

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

Chow CY et al.

American Journal of Human Genetics, 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."