Varaico: Literature-Extracted Genetic Variants

Gene:FGF14
Variant:p.D70Splc
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FGF14

NM_175929.3:p.D70Splc

Associated Papers

The First Case of Autosomal Recessive Cerebellar Ataxia with Prominent Paroxysmal Non-kinesigenic Dyskinesia Caused by a Truncating FGF14 Variant in a Turkish Patient.

Türkdoğan D et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

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

Piarroux J et al.

Annals of Clinical and Translational Neurology, 2020

Acetazolamide-Responsive Episodic Ataxia Linked to Novel Splice Site Variant in FGF14 Gene.

Schesny M et al.

Cerebellum (london, England), 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."