Varaico: Literature-Extracted Genetic Variants

Gene:ASXL3
Variant:p.R1060fs
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ASXL3

NM_030632.3:p.R1060fs

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

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_

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

Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature.

Balasubramanian M et al.

Journal of Medical Genetics, 2017

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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."