Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1E1
Variant:p.Y112insFs
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ATP6V1E1

NM_001696.4:p.Y112insFs

Associated Papers

Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures.

Pottie L et al.

Plos 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."