Varaico: Literature-Extracted Genetic Variants

Gene:MYOCD
Variant:p.E530G
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MYOCD

NM_001146312.3:p.E530G

Associated Papers

Loss-of-function variants in myocardin cause congenital megabladder in humans and mice.

Houweling AC et al.

The Journal of Clinical Investigation, 2019

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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."