Varaico: Literature-Extracted Genetic Variants

Gene:ASXL3
Variant:p.K1095_T1096delFs
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ASXL3

NM_030632.3:p.K1095_T1096delFs

Associated Papers

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations.

Woods E et al.

American Journal of Medical Genetics. Part A, 2025

Paternal mosaicism in ASXL3-related bainbridge-ropers syndrome: implications for genetic counseling and prenatal diagnosis.

Zhao B et al.

Frontiers in Pediatrics, 2025

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

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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."