Varaico: Literature-Extracted Genetic Variants

Gene:ASXL1
Variant:p.S142I
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ASXL1

NM_015338.6:p.S142I

Associated Papers

Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.

Kuechler A et al.

European Journal of Human Genetics : Ejhg, 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."