Varaico: Literature-Extracted Genetic Variants

Gene:ASXL3
Variant:p.C1165fs
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ASXL3

NM_030632.3:p.C1165fs

Associated Papers

Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3: Clinical abnormalities, medical imaging features, and gene variation in infancy of case report.

Yang L et al.

Bmc Pediatrics, 2020

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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."