Varaico: Literature-Extracted Genetic Variants

Gene:ASXL3
Variant:p.Y1633*
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ASXL3

NM_030632.3:p.Y1633*

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

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.

Seo GH et al.

Molecular Medicine (cambridge, Mass.), 2022

35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2
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