Varaico: Literature-Extracted Genetic Variants

Gene:FIG4
Variant:p.D48G
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FIG4

NM_014845.6:p.D48G

Associated Papers

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

Roles for a lipid phosphatase in the activation of its opposing lipid kinase.

Strunk BS et al.

Molecular Biology of the Cell, 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

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

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."