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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ASXL3

Variant:p.P1011fs

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ASXL3

NM_030632.3:p.P1011fs

hg38:chr18:33740435 CCT>N

Associated Papers

Novel mutation in the ASXL3 gene in a Chinese boy with microcephaly and speech impairment: A case report.

Li JR et al.

World Journal of Clinical Cases, 2020

33392332 (PubMed )

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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."