Varaico: Literature-Extracted Genetic Variants

Gene:PCYT1A
Variant:p.E280A
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PCYT1A

NM_001312673.2:p.E280A

Associated Papers

Disease-linked mutations in the phosphatidylcholine regulatory enzyme CCTα impair enzymatic activity and fold stability.

Cornell RB et al.

The Journal of Biological Chemistry, 2019

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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."