Varaico: Literature-Extracted Genetic Variants

Gene:FIG4
Variant:p.G253delFs
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FIG4

NM_014845.6:p.G253delFs

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

Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations.

Zhou Z et al.

Biorxiv : the Preprint Server for Biology, 2023

38077003 (PubMed )
Supplement: media-4.xlsx › Predicted_pathogenic_mut.

Genetic variability in sporadic amyotrophic lateral sclerosis.

Van Daele SH et al.

Brain : a Journal of Neurology, 2023

37043475 (PubMed )
Supplement: awad120_supplementary_data.zip › brain-2022-02191-File008.xlsx › suppl_table_6_P_LP

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

Sait H et al.

American Journal of Medical Genetics. Part A, 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

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

Umair M et al.

Molecular Syndromology, 2021

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

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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."