Varaico: Literature-Extracted Genetic Variants

Gene:FGF14
Variant:p.L211_H212insA
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FGF14

NM_004115.4:p.L211_H212insA

Associated Papers

FGF14-related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9.

Piarroux J et al.

Annals of Clinical and Translational Neurology, 2020

Spinocerebellar ataxia 27 with a novel nonsense variant (Lys177X) in FGF14.

Miura S et al.

European Journal of Medical Genetics, 2019

A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia.

Choquet K et al.

Neurogenetics, 2015

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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."