Varaico: Literature-Extracted Genetic Variants

Gene:ATCAY
Variant:p.D201_S203delFs
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ATCAY

NM_033064.5:p.D201_S203delFs

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

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

Abstracts of the Third International Congress on Treatment of Dystonia, 4-7 May 2016, Hannover, Germany.

Unknown Author

Journal of Neural Transmission (vienna, Austria : 1996), 2016

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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."