Varaico: Literature-Extracted Genetic Variants

Gene:ASXL3
Variant:p.R933W
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ASXL3

NM_030632.3:p.R933W

Associated Papers

Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.

Balasubramanian M et al.

Journal of Medical Genetics, 2017

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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."