Varaico: Literature-Extracted Genetic Variants

Gene:ZNF823
Variant:p.C250R
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ZNF823

NM_001080493.4:p.C250R

Associated Papers

Missense mutation in the ATPase, aminophospholipid transporter protein ATP8A2 is associated with cerebellar atrophy and quadrupedal locomotion.

Onat OE et al.

European Journal of Human Genetics : Ejhg, 2013

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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."