Varaico: Literature-Extracted Genetic Variants

Gene:ASXL3
Variant:p.T1384_V1385delFs
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ASXL3

NM_030632.3:p.T1384_V1385delFs

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

Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.

Hori I et al.

American Journal of Medical Genetics. Part A, 2016

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.

Zhu X et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

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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."