Varaico: Literature-Extracted Genetic Variants

Gene:ASXL3
Variant:p.P1010delFs
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ASXL3

NM_030632.3:p.P1010delFs

Associated Papers

ASXL3-related disorder: Molecular phenotyping and comprehensive review providing insights into disease mechanism.

Woods E et al.

Clinical Genetics, 2024

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 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

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

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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."