Varaico: Literature-Extracted Genetic Variants

Gene:FIG4
Variant:p.S166Splc
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FIG4

NM_014845.6:p.S166Splc

Associated Papers

Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism.

Lauerova B et al.

European Journal of Medical Genetics, 2025

Improving diagnosis of inherited peripheral neuropathies through gene panel analysis.

Laššuthová P et al.

Orphanet Journal of Rare Diseases, 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."