Varaico: Literature-Extracted Genetic Variants

Gene:ASXL3
Variant:p.T632insFs
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ASXL3

NM_030632.3:p.T632insFs

Associated Papers

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

Woods E et al.

Clinical Genetics, 2024

ASXL3 De Novo Variant-Related Neurodevelopmental Disorder Presenting as Dystonic Cerebral Palsy.

Švantnerová J et al.

Neuropediatrics, 2022

Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature.

Cuddapah VA et al.

American Journal of Medical Genetics. Part A, 2021

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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."