Varaico: Literature-Extracted Genetic Variants

Gene:FIG4
Variant:p.I220V
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FIG4

NM_014845.6:p.I220V

Associated Papers

Identification of TARDBP Gly298Ser as a founder mutation for amyotrophic lateral sclerosis in Southern China.

Xu F et al.

Bmc Medical Genomics, 2022

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

Yilihamu M et al.

Frontiers in Neurology, 2022

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

Umair M et al.

Molecular Syndromology, 2021

Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.

Giau VV et al.

Scientific Reports, 2019

31182772 (PubMed )
Supplement: 41598_2019_44848_MOESM1_ESM.pdf

Screening for possible oligogenic pathogenesis in Chinese sporadic ALS patients.

Zhang H et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2018

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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."