Varaico: Literature-Extracted Genetic Variants

Gene:RAB5B
Variant:p.D136H
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RAB5B

NM_002868.4:p.D136H

Associated Papers

A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C.

Huang H et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

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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."