Varaico: Literature-Extracted Genetic Variants

Gene:FIG4
Variant:p.Y169C
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FIG4

NM_014845.6:p.Y169C

Associated Papers

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

Wright GC et al.

Clinical Genetics, 2020

Cerebral hypomyelination associated with biallelic variants of FIG4.

Lenk GM et al.

Human Mutation, 2019

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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."