Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0A1
Variant:p.G512R
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ATP6V0A1

NM_001130021.3:p.G512R

Associated Papers

ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice.

Aoto K et al.

Nature Communications, 2021

33833240 (PubMed )
Supplement: 41467_2021_22389_MOESM1_ESM.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."