Varaico: Literature-Extracted Genetic Variants

Gene:ASXL3
Variant:p.E1824K
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ASXL3

NM_030632.3:p.E1824K

Associated Papers

Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay.

Wayhelova M et al.

Molecular Medicine Reports, 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."