Varaico: Literature-Extracted Genetic Variants

Gene:ATCAY
Variant:p.K295delFs
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ATCAY

NM_033064.5:p.K295delFs

Associated Papers

Reprint of : First case of Cayman ataxia far north of the Caribbean: A 20-year-old Inuit male with homozygous deletion in ATCAY gene.

Villa-Lopez M et al.

Parkinsonism & Related Disorders, 2025

First case of Cayman ataxia far north of the Caribbean: A 20-year-old Inuit male with homozygous deletion in ATCAY gene.

Villa-Lopez M et al.

Parkinsonism & Related Disorders, 2025

The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population.

Mahdieh N et al.

Human Genomics, 2024

Novel homozygous frameshift variant in the ATCAY gene in an Iranian patient with Cayman cerebellar ataxia; expanding the neuroimaging and clinical features: a case report.

Siavashani ES et al.

Bmc Medical Genomics, 2023

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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."