Varaico: Literature-Extracted Genetic Variants

Gene:CCDC88C
Variant:p.R629Q
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CCDC88C

NM_001080414.4:p.R629Q

Associated Papers

Spinocerebellar ataxia subtype 40: Report of a case and review of literature.

Kale GB et al.

Parkinsonism & Related Disorders, 2024

Novel mutation for SCA40 with initial presentation as retinitis pigmentosa.

Perković R et al.

Acta Neurologica Belgica, 2023

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

Spinocerebellar ataxia type 40: A case report and literature review.

Han F et al.

Translational Neuroscience, 2021

Evaluating the breast cancer predisposition role of rare variants in genes associated with low-penetrance breast cancer risk SNPs.

Li N et al.

Breast Cancer Research : Bcr, 2018

29316957 (PubMed )
Supplement: 13058_2017_929_MOESM1_ESM.xlsx › Table_S3
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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."