Varaico: Literature-Extracted Genetic Variants

Gene:FIG4
Variant:p.F254fs
Back to variants list

FIG4

NM_014845.6:p.F254fs

Associated Papers

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.

Studies of Genetic and Proteomic Risk Factors of Amyotrophic Lateral Sclerosis Inspire Biomarker Development and Gene Therapy.

Bagyinszky E et al.

Cells, 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

Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy.

Wright GC et al.

Clinical Genetics, 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

Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.

Campeau PM et al.

American Journal of Human Genetics, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."