Varaico: Literature-Extracted Genetic Variants

Gene:AUTS2
Variant:p.T542del1
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AUTS2

NM_015570.4:p.T542del1

Associated Papers

Whole-Exome Sequencing Identifies Novel Genetic Variants Associated with Unexplained Neurodevelopmental Disorders in Children.

Mancuso G et al.

International Journal of Molecular Sciences, 2026

Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.

Erdogan EN et al.

American Journal of Medical Genetics. Part A, 2025

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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."