Varaico: Literature-Extracted Genetic Variants

Gene:VPS4A
Variant:p.R284G
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VPS4A

NM_013245.3:p.R284G

Associated Papers

The congenital dyserythropoieitic anemias: genetics and pathophysiology.

King R et al.

Current Opinion in Hematology, 2022

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.

Rodger C et al.

American Journal of Human Genetics, 2020

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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."