Varaico: Literature-Extracted Genetic Variants

Gene:FIG4
Variant:p.A22_R23Splc
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FIG4

NM_014845.6:p.A22_R23Splc

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

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

Genome-wide discovery of human splicing branchpoints.

Mercer TR et al.

Genome Research, 2015

25561518 (PubMed )
Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_predictedMotifs

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

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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."