Varaico: Literature-Extracted Genetic Variants

Gene:ASXL1
Variant:p.K409E
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ASXL1

NM_015338.6:p.K409E

Associated Papers

A de novo Variant of ASXL1 Is Associated With an Atypical Phenotype of Bohring-Opitz Syndrome: Case Report and Literature Review.

Zhao W et al.

Frontiers in Pediatrics, 2021

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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."