Varaico: Literature-Extracted Genetic Variants

Gene:FIG4
Variant:p.K383Q
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FIG4

NM_014845.6:p.K383Q

Associated Papers

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

Umair M et al.

Molecular Syndromology, 2021

The NGS technology for the identification of genes associated with the ALS. A systematic review.

Pecoraro V et al.

European Journal of Clinical Investigation, 2020

Next-generation sequencing of 28 ALS-related genes in a Japanese ALS cohort.

Nakamura R et al.

Neurobiology of Aging, 2016

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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."