Varaico: Literature-Extracted Genetic Variants

Gene:FGF14
Variant:p.E147*
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FGF14

NM_004115.4:p.E147*

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

Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.

Komatsu K et al.

Scientific Reports, 2024

39433808 (PubMed )
Supplement: 41598_2024_75020_MOESM2_ESM.xlsx › Supplementary_Table_S1

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

Piarroux J et al.

Annals of Clinical and Translational Neurology, 2020

Benign paroxysmal torticollis, benign paroxysmal vertigo, and benign tonic upward gaze are not benign disorders.

Humbertclaude V et al.

Developmental Medicine and Child Neurology, 2018

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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."