Varaico: Literature-Extracted Genetic Variants

Gene:FGF14
Variant:p.R163delFs
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FGF14

NM_004115.4:p.R163delFs

Associated Papers

Spinocerebellar ataxias (SCAs) caused by common mutations.

Müller U

Neurogenetics, 2021

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

Miura S et al.

European Journal of Medical Genetics, 2019

Familial episodic ataxia in lambs is potentially associated with a mutation in the fibroblast growth factor 14 (FGF14) gene.

Dittmer KE et al.

Plos One, 2017

A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene.

Coebergh JA et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2014

Genetic analysis of SCA 27 in ataxia and childhood onset postural tremor.

Zhao Y et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2007

Mutation analysis in the fibroblast growth factor 14 gene: frameshift mutation and polymorphisms in patients with inherited ataxias.

Dalski A et al.

European Journal of Human Genetics : Ejhg, 2005

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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."