Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88C
Variant:p.E665K
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CCDC88C

NM_001080414.4:p.E665K

Associated Papers

Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations.

Yahia A et al.

European Journal of Human Genetics : Ejhg, 2024

Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the CCDC88C Gene.

Boros FA et al.

International Journal of Molecular Sciences, 2023

A Novel c.3636-4 A>G Mutation in the CCDC88C Plays a Causative Role in Familial Spinocerebellar Ataxia.

Chai S et al.

Human Heredity, 2023

A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report.

Yahia A et al.

Bmc Neurology, 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."