Varaico: Literature-Extracted Genetic Variants

Gene:ATCAY
Variant:p.Y184*
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ATCAY

NM_033064.5:p.Y184*

Associated Papers

Genetic aspects of ataxias in a cohort of Turkish patients.

Gogus B et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024

High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.

Hiz Kurul S et al.

Brain : a Journal of Neurology, 2022

34791078 (PubMed )
Supplement: awab395_supplementary_data.zip › brain-2021-01013-File007.pdf
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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."