Varaico: Literature-Extracted Genetic Variants

Gene:ATP8A2
Variant:p.D527Splc
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ATP8A2

NM_016529.6:p.D527Splc

Associated Papers

Compound Heterozygosity in Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.

Teov B et al.

Prilozi (makedonska Akademija Na Naukite I Umetnostite. Oddelenie Za Medicinski Nauki), 2023

Congenital ataxia due to novel variant in ATP8A2.

Damásio J et al.

Clinical Genetics, 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."