Varaico: Literature-Extracted Genetic Variants

Gene:PRKCG
Variant:p.C134R
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PRKCG

NM_002739.5:p.C134R

Associated Papers

Novel mutation in exon11 of PRKCG (SCA14): A case report.

Sun R et al.

Frontiers in Genetics, 2023

Comparison of two families with and without ataxia harboring novel variants in PRKCG.

Tada Y et al.

Journal of Human Genetics, 2022

Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations.

De Michele G et al.

Journal of Neurology, 2022

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.

Iqbal Z et al.

Plos One, 2017

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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."