Varaico: Literature-Extracted Genetic Variants

Gene:ALX4
Variant:p.G340fs
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ALX4

NM_021926.4:p.G340fs

Associated Papers

Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto-Shinawi syndrome.

Quental R et al.

American Journal of Medical Genetics. Part A, 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."