Varaico: Literature-Extracted Genetic Variants

Gene:ASXL3
Variant:p.P1010fs
Back to variants list

ASXL3

NM_030632.3:p.P1010fs

Associated Papers

De novo nonsense variant in ASXL3 in a Chinese girl causing Bainbridge-Ropers syndrome: A case report and review of literature.

Wang Q et al.

Molecular Genetics & Genomic Medicine, 2022

Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay.

Wayhelova M et al.

Molecular Medicine Reports, 2019

Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3.

Chinen Y et al.

Clinical Case Reports, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."