Varaico: Literature-Extracted Genetic Variants

Gene:PRKCG
Variant:p.L120F
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PRKCG

NM_002739.5:p.L120F

Associated Papers

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

Sun R et al.

Frontiers in Genetics, 2023

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

NGS in Hereditary Ataxia: When Rare Becomes Frequent.

Galatolo D et al.

International Journal of Molecular Sciences, 2021

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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."