Varaico: Literature-Extracted Genetic Variants

Gene:TMEM30A
Variant:p.E184Q
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TMEM30A

NM_018247.4:p.E184Q

Associated Papers

ATP11C mutation is responsible for the defect in phosphatidylserine uptake in UPS-1 cells.

Takada N et al.

Journal of Lipid Research, 2015

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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."